14-64636971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64636971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64636971
    reference: chr 14
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
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.6181A>G
  hgvsp: ENSP00000349969.3:p.Lys2061Glu
  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.6928A>G
  hgvsp: ENSP00000450831.1:p.Lys2310Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.781A>G
  hgvsp: ENSP00000451184.1:p.Lys261Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1912A>G
  hgvsp: ENSP00000451972.1:p.Lys638Glu
  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.6181A>G
  hgvsp: ENSP00000378249.2:p.Lys2061Glu
  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.17026A>G
  hgvsp: ENSP00000350719.3:p.Lys5676Glu
  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.*64717T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16651A>G
  hgvsp: ENSP00000452570.1:p.Lys5551Glu
  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.17026A>G
  hgvsp: ENSP00000341781.4:p.Lys5676Glu
  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+64717T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys5676Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-64636978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64636978
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64636978
    reference: chr 14
allele count: 60
allele frequency: 4.942420797706717e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16658C>T
  hgvsp: ENSP00000452570.1:p.Thr5553Met
  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.6188C>T
  hgvsp: ENSP00000349969.3:p.Thr2063Met
  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.*64710G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64710G>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.17033C>T
  hgvsp: ENSP00000350719.3:p.Thr5678Met
  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.6935C>T
  hgvsp: ENSP00000450831.1:p.Thr2312Met
  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.17033C>T
  hgvsp: ENSP00000341781.4:p.Thr5678Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.788C>T
  hgvsp: ENSP00000451184.1:p.Thr263Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1919C>T
  hgvsp: ENSP00000451972.1:p.Thr640Met
  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.6188C>T
  hgvsp: ENSP00000378249.2:p.Thr2063Met
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15905
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr5678Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-64636979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64636979
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64636979
    reference: chr 14
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
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.6189G>A
  hgvsp: ENST00000394768.2:c.6189G>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.*64709C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.789G>A
  hgvsp: ENST00000553289.1:c.789G>A(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.17034G>A
  hgvsp: ENST00000358025.3:c.17034G>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.6189G>A
  hgvsp: ENST00000357395.3:c.6189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1920G>A
  hgvsp: ENST00000555612.1:c.1920G>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+64709C>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.17034G>A
  hgvsp: ENST00000344113.4:c.17034G>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.16659G>A
  hgvsp: ENST00000554584.1:c.16659G>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.6936G>A
  hgvsp: ENST00000555002.1:c.6936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr5678Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

14-64636983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64636983
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64636983
    reference: chr 14
allele count: 8
allele frequency: 6.589785831960461e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.793C>T
  hgvsp: ENSP00000451184.1:p.Arg265Trp
  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.17038C>T
  hgvsp: ENSP00000341781.4:p.Arg5680Trp
  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.*64705G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1924C>T
  hgvsp: ENSP00000451972.1:p.Arg642Trp
  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.16663C>T
  hgvsp: ENSP00000452570.1:p.Arg5555Trp
  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.17038C>T
  hgvsp: ENSP00000350719.3:p.Arg5680Trp
  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.6940C>T
  hgvsp: ENSP00000450831.1:p.Arg2314Trp
  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.6193C>T
  hgvsp: ENSP00000378249.2:p.Arg2065Trp
  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.6193C>T
  hgvsp: ENSP00000349969.3:p.Arg2065Trp
  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+64705G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg5680Trp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

14-64636984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64636984
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64636984
    reference: chr 14
allele count: 14
allele frequency: 1.153193522347243e-4
allele num: 121402
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.6194G>A
  hgvsp: ENSP00000349969.3:p.Arg2065Gln
  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.6194G>A
  hgvsp: ENSP00000378249.2:p.Arg2065Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.794G>A
  hgvsp: ENSP00000451184.1:p.Arg265Gln
  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.6941G>A
  hgvsp: ENSP00000450831.1:p.Arg2314Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1925G>A
  hgvsp: ENSP00000451972.1:p.Arg642Gln
  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.17039G>A
  hgvsp: ENSP00000350719.3:p.Arg5680Gln
  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.17039G>A
  hgvsp: ENSP00000341781.4:p.Arg5680Gln
  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.16664G>A
  hgvsp: ENSP00000452570.1:p.Arg5555Gln
  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+64704C>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.*64704C>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg5680Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

14-64636985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64636985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64636985
    reference: chr 14
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
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.6195G>A
  hgvsp: ENST00000394768.2:c.6195G>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+64703C>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.*64703C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16665G>A
  hgvsp: ENST00000554584.1:c.16665G>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.17040G>A
  hgvsp: ENST00000344113.4:c.17040G>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.6942G>A
  hgvsp: ENST00000555002.1:c.6942G>A(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.17040G>A
  hgvsp: ENST00000358025.3:c.17040G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.795G>A
  hgvsp: ENST00000553289.1:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1926G>A
  hgvsp: ENST00000555612.1:c.1926G>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.6195G>A
  hgvsp: ENST00000357395.3:c.6195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39908
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg5680Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

14-64636998-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64636998
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64636998
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16678G>C
  hgvsp: ENSP00000452570.1:p.Val5560Leu
  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.6208G>C
  hgvsp: ENSP00000378249.2:p.Val2070Leu
  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.17053G>C
  hgvsp: ENSP00000350719.3:p.Val5685Leu
  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+64690C>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.6955G>C
  hgvsp: ENSP00000450831.1:p.Val2319Leu
  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.6208G>C
  hgvsp: ENSP00000349969.3:p.Val2070Leu
  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.17053G>C
  hgvsp: ENSP00000341781.4:p.Val5685Leu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1939G>C
  hgvsp: ENSP00000451972.1:p.Val647Leu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.808G>C
  hgvsp: ENSP00000451184.1:p.Val270Leu
  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.*64690C>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val5685Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

14-64637003-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637003
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637003
    reference: chr 14
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.6960G>C
  hgvsp: ENSP00000450831.1:p.Gln2320His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.813G>C
  hgvsp: ENSP00000451184.1:p.Gln271His
  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.*64685C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1944G>C
  hgvsp: ENSP00000451972.1:p.Gln648His
  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+64685C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6213G>C
  hgvsp: ENSP00000378249.2:p.Gln2071His
  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.17058G>C
  hgvsp: ENSP00000350719.3:p.Gln5686His
  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.16683G>C
  hgvsp: ENSP00000452570.1:p.Gln5561His
  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.6213G>C
  hgvsp: ENSP00000349969.3:p.Gln2071His
  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.17058G>C
  hgvsp: ENSP00000341781.4:p.Gln5686His
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln5686His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-64637010-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637010
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637010
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.820C>A
  hgvsp: ENST00000553289.1:c.820C>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.17065C>A
  hgvsp: ENST00000344113.4:c.17065C>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.*64678G>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.6220C>A
  hgvsp: ENST00000357395.3:c.6220C>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+64678G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1951C>A
  hgvsp: ENST00000555612.1:c.1951C>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.6220C>A
  hgvsp: ENST00000394768.2:c.6220C>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.6967C>A
  hgvsp: ENST00000555002.1:c.6967C>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.16690C>A
  hgvsp: ENST00000554584.1:c.16690C>A(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.17065C>A
  hgvsp: ENST00000358025.3:c.17065C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg5689Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-64637010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637010
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637010
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6220C>T
  hgvsp: ENSP00000378249.2:p.Arg2074Trp
  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.16690C>T
  hgvsp: ENSP00000452570.1:p.Arg5564Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1951C>T
  hgvsp: ENSP00000451972.1:p.Arg651Trp
  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.6220C>T
  hgvsp: ENSP00000349969.3:p.Arg2074Trp
  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.17065C>T
  hgvsp: ENSP00000341781.4:p.Arg5689Trp
  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.6967C>T
  hgvsp: ENSP00000450831.1:p.Arg2323Trp
  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.17065C>T
  hgvsp: ENSP00000350719.3:p.Arg5689Trp
  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.*64678G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.820C>T
  hgvsp: ENSP00000451184.1:p.Arg274Trp
  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+64678G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg5689Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

14-64637011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637011
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637011
    reference: chr 14
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6221G>A
  hgvsp: ENSP00000378249.2:p.Arg2074Gln
  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.6221G>A
  hgvsp: ENSP00000349969.3:p.Arg2074Gln
  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.17066G>A
  hgvsp: ENSP00000341781.4:p.Arg5689Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.821G>A
  hgvsp: ENSP00000451184.1:p.Arg274Gln
  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.*64677C>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.16691G>A
  hgvsp: ENSP00000452570.1:p.Arg5564Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1952G>A
  hgvsp: ENSP00000451972.1:p.Arg651Gln
  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.6968G>A
  hgvsp: ENSP00000450831.1:p.Arg2323Gln
  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+64677C>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.17066G>A
  hgvsp: ENSP00000350719.3:p.Arg5689Gln
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg5689Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-64637021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637021
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637021
    reference: chr 14
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.831G>A
  hgvsp: ENST00000553289.1:c.831G>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.16701G>A
  hgvsp: ENST00000554584.1:c.16701G>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.6231G>A
  hgvsp: ENST00000357395.3:c.6231G>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+64667C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6231G>A
  hgvsp: ENST00000394768.2:c.6231G>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.6978G>A
  hgvsp: ENST00000555002.1:c.6978G>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.*64667C>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.17076G>A
  hgvsp: ENST00000358025.3:c.17076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1962G>A
  hgvsp: ENST00000555612.1:c.1962G>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.17076G>A
  hgvsp: ENST00000344113.4:c.17076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys5692Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-64637028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637028
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637028
    reference: chr 14
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1969G>A
  hgvsp: ENSP00000451972.1:p.Val657Ile
  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.17083G>A
  hgvsp: ENSP00000350719.3:p.Val5695Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.838G>A
  hgvsp: ENSP00000451184.1:p.Val280Ile
  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.6238G>A
  hgvsp: ENSP00000349969.3:p.Val2080Ile
  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.*64660C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.6985G>A
  hgvsp: ENSP00000450831.1:p.Val2329Ile
  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.16708G>A
  hgvsp: ENSP00000452570.1:p.Val5570Ile
  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+64660C>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.17083G>A
  hgvsp: ENSP00000341781.4:p.Val5695Ile
  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.6238G>A
  hgvsp: ENSP00000378249.2:p.Val2080Ile
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val5695Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

14-64637031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637031
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637031
    reference: chr 14
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64657C>G
  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.6241G>C
  hgvsp: ENSP00000349969.3:p.Asp2081His
  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.6988G>C
  hgvsp: ENSP00000450831.1:p.Asp2330His
  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.16711G>C
  hgvsp: ENSP00000452570.1:p.Asp5571His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1972G>C
  hgvsp: ENSP00000451972.1:p.Asp658His
  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.17086G>C
  hgvsp: ENSP00000341781.4:p.Asp5696His
  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.17086G>C
  hgvsp: ENSP00000350719.3:p.Asp5696His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.841G>C
  hgvsp: ENSP00000451184.1:p.Asp281His
  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.6241G>C
  hgvsp: ENSP00000378249.2:p.Asp2081His
  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+64657C>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp5696His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

14-64637036-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637036
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637036
    reference: chr 14
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.17091G>C
  hgvsp: ENST00000358025.3:c.17091G>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.6246G>C
  hgvsp: ENST00000357395.3:c.6246G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16716G>C
  hgvsp: ENST00000554584.1:c.16716G>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.*64652C>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+64652C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6246G>C
  hgvsp: ENST00000394768.2:c.6246G>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.6993G>C
  hgvsp: ENST00000555002.1:c.6993G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.846G>C
  hgvsp: ENST00000553289.1:c.846G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1977G>C
  hgvsp: ENST00000555612.1:c.1977G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17091G>C
  hgvsp: ENST00000344113.4:c.17091G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8138
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gly5697Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

14-64637038-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637038
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637038
    reference: chr 14
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64650A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6248T>C
  hgvsp: ENSP00000378249.2:p.Leu2083Pro
  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.6995T>C
  hgvsp: ENSP00000450831.1:p.Leu2332Pro
  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.17093T>C
  hgvsp: ENSP00000350719.3:p.Leu5698Pro
  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+64650A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16718T>C
  hgvsp: ENSP00000452570.1:p.Leu5573Pro
  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.17093T>C
  hgvsp: ENSP00000341781.4:p.Leu5698Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1979T>C
  hgvsp: ENSP00000451972.1:p.Leu660Pro
  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.6248T>C
  hgvsp: ENSP00000349969.3:p.Leu2083Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.848T>C
  hgvsp: ENSP00000451184.1:p.Leu283Pro
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu5698Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-64637040-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637040
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637040
    reference: chr 14
allele count: 9
allele frequency: 7.413386929375134e-5
allele num: 121402
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.6250G>T
  hgvsp: ENSP00000349969.3:p.Val2084Leu
  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.17095G>T
  hgvsp: ENSP00000350719.3:p.Val5699Leu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.1981G>T
  hgvsp: ENSP00000451972.1:p.Val661Leu
  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.6997G>T
  hgvsp: ENSP00000450831.1:p.Val2333Leu
  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.17095G>T
  hgvsp: ENSP00000341781.4:p.Val5699Leu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.850G>T
  hgvsp: ENSP00000451184.1:p.Val284Leu
  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+64648C>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16719+1G>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.6250G>T
  hgvsp: ENSP00000378249.2:p.Val2084Leu
  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.*64648C>A
  variant of: http://identifiers.org/hgnc/3468
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: c.16719+1G>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-64637062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637062
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637062
    reference: chr 14
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17117C>T
  hgvsp: ENSP00000341781.4:p.Thr5706Ile
  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.7019C>T
  hgvsp: ENSP00000450831.1:p.Thr2340Ile
  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.17117C>T
  hgvsp: ENSP00000350719.3:p.Thr5706Ile
  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+64626G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6272C>T
  hgvsp: ENSP00000349969.3:p.Thr2091Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2003C>T
  hgvsp: ENSP00000451972.1:p.Thr668Ile
  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.*64626G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.872C>T
  hgvsp: ENSP00000451184.1:p.Thr291Ile
  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.6272C>T
  hgvsp: ENSP00000378249.2:p.Thr2091Ile
  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.16719+23C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr5706Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

14-64637064-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637064
    reference: chr 14
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64624T>A
  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.7021A>T
  hgvsp: ENSP00000450831.1:p.Thr2341Ser
  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+64624T>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.6274A>T
  hgvsp: ENSP00000378249.2:p.Thr2092Ser
  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.6274A>T
  hgvsp: ENSP00000349969.3:p.Thr2092Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2005A>T
  hgvsp: ENSP00000451972.1:p.Thr669Ser
  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.16719+25A>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.874A>T
  hgvsp: ENSP00000451184.1:p.Thr292Ser
  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.17119A>T
  hgvsp: ENSP00000341781.4:p.Thr5707Ser
  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.17119A>T
  hgvsp: ENSP00000350719.3:p.Thr5707Ser
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr5707Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

14-64637065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637065
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637065
    reference: chr 14
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
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.7022C>T
  hgvsp: ENSP00000450831.1:p.Thr2341Ile
  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.16719+26C>T
  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.17120C>T
  hgvsp: ENSP00000341781.4:p.Thr5707Ile
  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+64623G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2006C>T
  hgvsp: ENSP00000451972.1:p.Thr669Ile
  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.6275C>T
  hgvsp: ENSP00000349969.3:p.Thr2092Ile
  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.17120C>T
  hgvsp: ENSP00000350719.3:p.Thr5707Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.875C>T
  hgvsp: ENSP00000451184.1:p.Thr292Ile
  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.*64623G>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.6275C>T
  hgvsp: ENSP00000378249.2:p.Thr2092Ile
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr5707Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-64637070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637070
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637070
    reference: chr 14
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
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.6280G>A
  hgvsp: ENSP00000349969.3:p.Val2094Met
  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.17125G>A
  hgvsp: ENSP00000350719.3:p.Val5709Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2011G>A
  hgvsp: ENSP00000451972.1:p.Val671Met
  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.*64618C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64618C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7027G>A
  hgvsp: ENSP00000450831.1:p.Val2343Met
  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.17125G>A
  hgvsp: ENSP00000341781.4:p.Val5709Met
  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.16719+31G>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.6280G>A
  hgvsp: ENSP00000378249.2:p.Val2094Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.880G>A
  hgvsp: ENSP00000451184.1:p.Val294Met
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8136
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val5709Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

14-64637075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637075
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637075
    reference: chr 14
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.17130G>A
  hgvsp: ENST00000358025.3:c.17130G>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.6285G>A
  hgvsp: ENST00000394768.2:c.6285G>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.17130G>A
  hgvsp: ENST00000344113.4:c.17130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2016G>A
  hgvsp: ENST00000555612.1:c.2016G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.885G>A
  hgvsp: ENST00000553289.1:c.885G>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.7032G>A
  hgvsp: ENST00000555002.1:c.7032G>A(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.16719+36G>A
  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.6285G>A
  hgvsp: ENST00000357395.3:c.6285G>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+64613C>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.*64613C>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu5710Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

14-64637085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637085
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637085
    reference: chr 14
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6295C>T
  hgvsp: ENSP00000378249.2:p.Arg2099Cys
  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+64603G>A
  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.7042C>T
  hgvsp: ENSP00000450831.1:p.Arg2348Cys
  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.17140C>T
  hgvsp: ENSP00000341781.4:p.Arg5714Cys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2026C>T
  hgvsp: ENSP00000451972.1:p.Arg676Cys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.895C>T
  hgvsp: ENSP00000451184.1:p.Arg299Cys
  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.6295C>T
  hgvsp: ENSP00000349969.3:p.Arg2099Cys
  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.16719+46C>T
  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.17140C>T
  hgvsp: ENSP00000350719.3:p.Arg5714Cys
  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.*64603G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg5714Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

14-64637086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637086
    reference: chr 14
allele count: 20
allele frequency: 1.650437365901964e-4
allele num: 121180
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.*64602C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64602C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7043G>A
  hgvsp: ENSP00000450831.1:p.Arg2348His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2027G>A
  hgvsp: ENSP00000451972.1:p.Arg676His
  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.17141G>A
  hgvsp: ENSP00000350719.3:p.Arg5714His
  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.6296G>A
  hgvsp: ENSP00000349969.3:p.Arg2099His
  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.17141G>A
  hgvsp: ENSP00000341781.4:p.Arg5714His
  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.6296G>A
  hgvsp: ENSP00000378249.2:p.Arg2099His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.896G>A
  hgvsp: ENSP00000451184.1:p.Arg299His
  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.16719+47G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg5714His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

14-64637088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637088
    reference: chr 14
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
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+64600A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2029T>C
  hgvsp: ENSP00000451972.1:p.Phe677Leu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.898T>C
  hgvsp: ENSP00000451184.1:p.Phe300Leu
  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.16719+49T>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.17143T>C
  hgvsp: ENSP00000350719.3:p.Phe5715Leu
  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.6298T>C
  hgvsp: ENSP00000349969.3:p.Phe2100Leu
  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.6298T>C
  hgvsp: ENSP00000378249.2:p.Phe2100Leu
  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.7045T>C
  hgvsp: ENSP00000450831.1:p.Phe2349Leu
  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.*64600A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17143T>C
  hgvsp: ENSP00000341781.4:p.Phe5715Leu
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe5715Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

14-64637089-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637089
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637089
    reference: chr 14
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
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.7046T>A
  hgvsp: ENSP00000450831.1:p.Phe2349Tyr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2030T>A
  hgvsp: ENSP00000451972.1:p.Phe677Tyr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.899T>A
  hgvsp: ENSP00000451184.1:p.Phe300Tyr
  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.17144T>A
  hgvsp: ENSP00000350719.3:p.Phe5715Tyr
  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+64599A>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6299T>A
  hgvsp: ENSP00000349969.3:p.Phe2100Tyr
  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.17144T>A
  hgvsp: ENSP00000341781.4:p.Phe5715Tyr
  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.16719+50T>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.6299T>A
  hgvsp: ENSP00000378249.2:p.Phe2100Tyr
  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.*64599A>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe5715Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

14-64637093-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637093
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637093
    reference: chr 14
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6303C>G
  hgvsp: ENST00000394768.2:c.6303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2034C>G
  hgvsp: ENST00000555612.1:c.2034C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7050C>G
  hgvsp: ENST00000555002.1:c.7050C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64595G>C
  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.17148C>G
  hgvsp: ENST00000358025.3:c.17148C>G(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.17148C>G
  hgvsp: ENST00000344113.4:c.17148C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6303C>G
  hgvsp: ENST00000357395.3:c.6303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.903C>G
  hgvsp: ENST00000553289.1:c.903C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64595G>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.16719+54C>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu5716Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

14-64637094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637094
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637094
    reference: chr 14
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64594T>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.6304A>G
  hgvsp: ENSP00000378249.2:p.Thr2102Ala
  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.6304A>G
  hgvsp: ENSP00000349969.3:p.Thr2102Ala
  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.17149A>G
  hgvsp: ENSP00000341781.4:p.Thr5717Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.904A>G
  hgvsp: ENSP00000451184.1:p.Thr302Ala
  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.7051A>G
  hgvsp: ENSP00000450831.1:p.Thr2351Ala
  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.16719+55A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2035A>G
  hgvsp: ENSP00000451972.1:p.Thr679Ala
  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.*64594T>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.17149A>G
  hgvsp: ENSP00000350719.3:p.Thr5717Ala
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr5717Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-64637095-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637095
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637095
    reference: chr 14
allele count: 3
allele frequency: 2.479256884069948e-5
allele num: 121004
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.*64593G>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.17150C>G
  hgvsp: ENSP00000341781.4:p.Thr5717Ser
  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.16719+56C>G
  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.17150C>G
  hgvsp: ENSP00000350719.3:p.Thr5717Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2036C>G
  hgvsp: ENSP00000451972.1:p.Thr679Ser
  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.6305C>G
  hgvsp: ENSP00000349969.3:p.Thr2102Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.905C>G
  hgvsp: ENSP00000451184.1:p.Thr302Ser
  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.7052C>G
  hgvsp: ENSP00000450831.1:p.Thr2351Ser
  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+64593G>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.6305C>G
  hgvsp: ENSP00000378249.2:p.Thr2102Ser
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr5717Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

14-64637097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637097
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637097
    reference: chr 14
allele count: 2
allele frequency: 1.653001851362074e-5
allele num: 120992
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.7054G>A
  hgvsp: ENSP00000450831.1:p.Asp2352Asn
  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.*64591C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.907G>A
  hgvsp: ENSP00000451184.1:p.Asp303Asn
  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.17152G>A
  hgvsp: ENSP00000350719.3:p.Asp5718Asn
  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.16719+58G>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.6307G>A
  hgvsp: ENSP00000378249.2:p.Asp2103Asn
  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.17152G>A
  hgvsp: ENSP00000341781.4:p.Asp5718Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2038G>A
  hgvsp: ENSP00000451972.1:p.Asp680Asn
  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.6307G>A
  hgvsp: ENSP00000349969.3:p.Asp2103Asn
  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+64591C>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp5718Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-64637101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637101
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637101
    reference: chr 14
allele count: 5
allele frequency: 4.136265118049007e-5
allele num: 120882
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.7058C>T
  hgvsp: ENSP00000450831.1:p.Thr2353Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2042C>T
  hgvsp: ENSP00000451972.1:p.Thr681Ile
  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+64587G>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.*64587G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6311C>T
  hgvsp: ENSP00000349969.3:p.Thr2104Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.911C>T
  hgvsp: ENSP00000451184.1:p.Thr304Ile
  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.6311C>T
  hgvsp: ENSP00000378249.2:p.Thr2104Ile
  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.17156C>T
  hgvsp: ENSP00000341781.4:p.Thr5719Ile
  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.17156C>T
  hgvsp: ENSP00000350719.3:p.Thr5719Ile
  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.16719+62C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr5719Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

14-64637103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637103
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637103
    reference: chr 14
allele count: 14
allele frequency: 1.158786915640313e-4
allele num: 120816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16719+64A>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.7060A>G
  hgvsp: ENSP00000450831.1:p.Ser2354Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2044A>G
  hgvsp: ENSP00000451972.1:p.Ser682Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.913A>G
  hgvsp: ENSP00000451184.1:p.Ser305Gly
  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+64585T>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.6313A>G
  hgvsp: ENSP00000378249.2:p.Ser2105Gly
  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.17158A>G
  hgvsp: ENSP00000350719.3:p.Ser5720Gly
  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.6313A>G
  hgvsp: ENSP00000349969.3:p.Ser2105Gly
  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.*64585T>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.17158A>G
  hgvsp: ENSP00000341781.4:p.Ser5720Gly
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29641
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16027
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser5720Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-64637108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637108
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637108
    reference: chr 14
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.918C>T
  hgvsp: ENST00000553289.1:c.918C>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+64580G>A
  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.17163C>T
  hgvsp: ENST00000344113.4:c.17163C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2049C>T
  hgvsp: ENST00000555612.1:c.2049C>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.6318C>T
  hgvsp: ENST00000394768.2:c.6318C>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.17163C>T
  hgvsp: ENST00000358025.3:c.17163C>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.7065C>T
  hgvsp: ENST00000555002.1:c.7065C>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.16719+69C>T
  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.6318C>T
  hgvsp: ENST00000357395.3:c.6318C>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.*64580G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His5721His
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

14-64637111-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637111
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637111
    reference: chr 14
allele count: 3
allele frequency: 2.490825459557297e-5
allele num: 120442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2052G>C
  hgvsp: ENST00000555612.1:c.2052G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.921G>C
  hgvsp: ENST00000553289.1:c.921G>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.*64577C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.17166G>C
  hgvsp: ENST00000358025.3:c.17166G>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.7068G>C
  hgvsp: ENST00000555002.1:c.7068G>C(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.16719+72G>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.6321G>C
  hgvsp: ENST00000357395.3:c.6321G>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.6321G>C
  hgvsp: ENST00000394768.2:c.6321G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17166G>C
  hgvsp: ENST00000344113.4:c.17166G>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+64577C>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu5722Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-64637114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637114
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637114
    reference: chr 14
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.17169A>G
  hgvsp: ENST00000358025.3:c.17169A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64574T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64574T>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.16719+75A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.924A>G
  hgvsp: ENST00000553289.1:c.924A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6324A>G
  hgvsp: ENST00000357395.3:c.6324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2055A>G
  hgvsp: ENST00000555612.1:c.2055A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7071A>G
  hgvsp: ENST00000555002.1:c.7071A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6324A>G
  hgvsp: ENST00000394768.2:c.6324A>G(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.17169A>G
  hgvsp: ENST00000344113.4:c.17169A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu5723Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-64637117-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637117
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637117
    reference: chr 14
allele count: 6
allele frequency: 4.993175992809827e-5
allele num: 120164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7074T>C
  hgvsp: ENST00000555002.1:c.7074T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17172T>C
  hgvsp: ENST00000344113.4:c.17172T>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.17172T>C
  hgvsp: ENST00000358025.3:c.17172T>C(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.16719+78T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2058T>C
  hgvsp: ENST00000555612.1:c.2058T>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+64571A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64571A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6327T>C
  hgvsp: ENST00000394768.2:c.6327T>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.6327T>C
  hgvsp: ENST00000357395.3:c.6327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.927T>C
  hgvsp: ENST00000553289.1:c.927T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser5724Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-64637121-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637121
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637121
    reference: chr 14
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16719+82G>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.6331G>C
  hgvsp: ENSP00000349969.3:p.Val2111Leu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2062G>C
  hgvsp: ENSP00000451972.1:p.Val688Leu
  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.6331G>C
  hgvsp: ENSP00000378249.2:p.Val2111Leu
  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+64567C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17176G>C
  hgvsp: ENSP00000341781.4:p.Val5726Leu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.931G>C
  hgvsp: ENSP00000451184.1:p.Val311Leu
  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.*64567C>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.7078G>C
  hgvsp: ENSP00000450831.1:p.Val2360Leu
  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.17176G>C
  hgvsp: ENSP00000350719.3:p.Val5726Leu
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val5726Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

14-64637128-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637128
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637128
    reference: chr 14
allele count: 1
allele frequency: 8.443663874628478e-6
allele num: 118432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6338G>T
  hgvsp: ENSP00000378249.2:p.Gly2113Val
  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.6338G>T
  hgvsp: ENSP00000349969.3:p.Gly2113Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2069G>T
  hgvsp: ENSP00000451972.1:p.Gly690Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.938G>T
  hgvsp: ENSP00000451184.1:p.Gly313Val
  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.17183G>T
  hgvsp: ENSP00000350719.3:p.Gly5728Val
  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.7085G>T
  hgvsp: ENSP00000450831.1:p.Gly2362Val
  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+64560C>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.*64560C>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17183G>T
  hgvsp: ENSP00000341781.4:p.Gly5728Val
  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.16719+89G>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly5728Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

14-64637133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637133
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637133
    reference: chr 14
allele count: 4
allele frequency: 3.416875950318624e-5
allele num: 117066
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.7090G>A
  hgvsp: ENSP00000450831.1:p.Glu2364Lys
  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.*64555C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64555C>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.17188G>A
  hgvsp: ENSP00000341781.4:p.Glu5730Lys
  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.6343G>A
  hgvsp: ENSP00000349969.3:p.Glu2115Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2074G>A
  hgvsp: ENSP00000451972.1:p.Glu692Lys
  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.6343G>A
  hgvsp: ENSP00000378249.2:p.Glu2115Lys
  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.17188G>A
  hgvsp: ENSP00000350719.3:p.Glu5730Lys
  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.16719+94G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.943G>A
  hgvsp: ENSP00000451184.1:p.Glu315Lys
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu5730Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-64637135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637135
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637135
    reference: chr 14
allele count: 1
allele frequency: 8.558273282782466e-6
allele num: 116846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.945G>A
  hgvsp: ENST00000553289.1:c.945G>A(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.16719+96G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2076G>A
  hgvsp: ENST00000555612.1:c.2076G>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.6345G>A
  hgvsp: ENST00000357395.3:c.6345G>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.17190G>A
  hgvsp: ENST00000344113.4:c.17190G>A(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.17190G>A
  hgvsp: ENST00000358025.3:c.17190G>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.7092G>A
  hgvsp: ENST00000555002.1:c.7092G>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.*64553C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64553C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6345G>A
  hgvsp: ENST00000394768.2:c.6345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu5730Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-64637136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637136
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637136
    reference: chr 14
allele count: 8
allele frequency: 6.864949285187155e-5
allele num: 116534
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.7093C>T
  hgvsp: ENSP00000450831.1:p.Arg2365Cys
  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+64552G>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.16719+97C>T
  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.6346C>T
  hgvsp: ENSP00000349969.3:p.Arg2116Cys
  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.17191C>T
  hgvsp: ENSP00000350719.3:p.Arg5731Cys
  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.*64552G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2077C>T
  hgvsp: ENSP00000451972.1:p.Arg693Cys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.946C>T
  hgvsp: ENSP00000451184.1:p.Arg316Cys
  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.6346C>T
  hgvsp: ENSP00000378249.2:p.Arg2116Cys
  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.17191C>T
  hgvsp: ENSP00000341781.4:p.Arg5731Cys
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg5731Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-64637145-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637145
    reference: chr 14
allele count: 1
allele frequency: 8.807623879229862e-6
allele num: 113538
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.6355C>G
  hgvsp: ENSP00000378249.2:p.Leu2119Val
  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.*64543G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.955C>G
  hgvsp: ENSP00000451184.1:p.Leu319Val
  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.6355C>G
  hgvsp: ENSP00000349969.3:p.Leu2119Val
  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+64543G>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.17200C>G
  hgvsp: ENSP00000341781.4:p.Leu5734Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2086C>G
  hgvsp: ENSP00000451972.1:p.Leu696Val
  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.16719+106C>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.7102C>G
  hgvsp: ENSP00000450831.1:p.Leu2368Val
  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.17200C>G
  hgvsp: ENSP00000350719.3:p.Leu5734Val
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu5734Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

14-64637145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637145
    reference: chr 14
allele count: 5
allele frequency: 4.403811939614931e-5
allele num: 113538
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.7102C>T
  hgvsp: ENSP00000450831.1:p.Leu2368Phe
  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.16719+106C>T
  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.17200C>T
  hgvsp: ENSP00000350719.3:p.Leu5734Phe
  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.17200C>T
  hgvsp: ENSP00000341781.4:p.Leu5734Phe
  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.6355C>T
  hgvsp: ENSP00000378249.2:p.Leu2119Phe
  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.6355C>T
  hgvsp: ENSP00000349969.3:p.Leu2119Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2086C>T
  hgvsp: ENSP00000451972.1:p.Leu696Phe
  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+64543G>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.*64543G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.955C>T
  hgvsp: ENSP00000451184.1:p.Leu319Phe
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21211
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu5734Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-64637147-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637147
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637147
    reference: chr 14
allele count: 39390
allele frequency: 3.510382318866411e-1
allele num: 112210
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6357C>A
  hgvsp: ENST00000357395.3:c.6357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.957C>A
  hgvsp: ENST00000553289.1:c.957C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17202C>A
  hgvsp: ENST00000344113.4:c.17202C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2088C>A
  hgvsp: ENST00000555612.1:c.2088C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16719+108C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64541G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.17202C>A
  hgvsp: ENST00000358025.3:c.17202C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6357C>A
  hgvsp: ENST00000394768.2:c.6357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7104C>A
  hgvsp: ENST00000555002.1:c.7104C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64541G>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 1.75e1
  variant carriers: 4285
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 7.5e0
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 3.25e1
  variant carriers: 4456
genotype depth: GenotypeDepth
  all individuals: 15241
  bin: 2.25e1
  variant carriers: 6233
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 1.25e1
  variant carriers: 1440
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 2593
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 2.75e1
  variant carriers: 6199
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 1389
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 747
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 3751
genotype quality: GenotypeQuality
hgvs: p.Leu5734Leu
num of homozygotes: 6653
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/14-64637154-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637154
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637154
    reference: chr 14
allele count: 16
allele frequency: 1.632686381354721e-4
allele num: 97998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7111A>C
  hgvsp: ENSP00000450831.1:p.Thr2371Pro
  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.6364A>C
  hgvsp: ENSP00000349969.3:p.Thr2122Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2095A>C
  hgvsp: ENSP00000451972.1:p.Thr699Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.964A>C
  hgvsp: ENSP00000451184.1:p.Thr322Pro
  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.*64534T>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16719+115A>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.17209A>C
  hgvsp: ENSP00000341781.4:p.Thr5737Pro
  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.17209A>C
  hgvsp: ENSP00000350719.3:p.Thr5737Pro
  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.6364A>C
  hgvsp: ENSP00000378249.2:p.Thr2122Pro
  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+64534T>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr5737Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-64637158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637158
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637158
    reference: chr 14
allele count: 1
allele frequency: 1.055319867451825e-5
allele num: 94758
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.16719+119G>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.7115G>A
  hgvsp: ENSP00000450831.1:p.Arg2372Lys
  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.*64530C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2099G>A
  hgvsp: ENSP00000451972.1:p.Arg700Lys
  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.6368G>A
  hgvsp: ENSP00000349969.3:p.Arg2123Lys
  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.17213G>A
  hgvsp: ENSP00000341781.4:p.Arg5738Lys
  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+64530C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.968G>A
  hgvsp: ENSP00000451184.1:p.Arg323Lys
  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.17213G>A
  hgvsp: ENSP00000350719.3:p.Arg5738Lys
  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.6368G>A
  hgvsp: ENSP00000378249.2:p.Arg2123Lys
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg5738Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

14-64637170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637170
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637170
    reference: chr 14
allele count: 2
allele frequency: 2.353827323227568e-5
allele num: 84968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.980A>G
  hgvsp: ENSP00000451184.1:p.His327Arg
  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.6380A>G
  hgvsp: ENSP00000378249.2:p.His2127Arg
  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.17225A>G
  hgvsp: ENSP00000341781.4:p.His5742Arg
  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.16719+131A>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.6380A>G
  hgvsp: ENSP00000349969.3:p.His2127Arg
  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.7127A>G
  hgvsp: ENSP00000450831.1:p.His2376Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2111A>G
  hgvsp: ENSP00000451972.1:p.His704Arg
  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.17225A>G
  hgvsp: ENSP00000350719.3:p.His5742Arg
  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.*64518T>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+64518T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29174
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His5742Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

14-64637171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637171
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637171
    reference: chr 14
allele count: 1
allele frequency: 1.186464809453752e-5
allele num: 84284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6381T>C
  hgvsp: ENST00000394768.2:c.6381T>C(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.16719+132T>C
  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.7128T>C
  hgvsp: ENST00000555002.1:c.7128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.17226T>C
  hgvsp: ENST00000344113.4:c.17226T>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.17226T>C
  hgvsp: ENST00000358025.3:c.17226T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2112T>C
  hgvsp: ENST00000555612.1:c.2112T>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.6381T>C
  hgvsp: ENST00000357395.3:c.6381T>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+64517A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*64517A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.981T>C
  hgvsp: ENST00000553289.1:c.981T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His5742His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-64637185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637185
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637185
    reference: chr 14
allele count: 3
allele frequency: 4.056575709224653e-5
allele num: 73954
alternate allele: C
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.990+5T>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.*64503A>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+64503A>G
  variant of: http://identifiers.org/hgnc/3468
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.6390+5T>C
  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.6390+5T>C
  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.7137+5T>C
  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.17235+5T>C
  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.2121+5T>C
  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.17235+5T>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.16719+146T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19538
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33516
  bin: 2.25e1
  variant carriers: 0
hgvs: c.17235+5T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

14-64637194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637194
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637194
    reference: chr 14
allele count: 1
allele frequency: 1.532097441397273e-5
allele num: 65270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+64494G>A
  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.17235+14C>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.17235+14C>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.7137+14C>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.6390+14C>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.990+14C>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.16719+155C>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.6390+14C>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.2121+14C>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.*64494G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

14-64637195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637195
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637195
    reference: chr 14
allele count: 4
allele frequency: 6.335128286347799e-5
allele num: 63140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.17235+15G>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+64493C>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.17235+15G>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.7137+15G>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.6390+15G>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.16719+156G>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.2121+15G>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.990+15G>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.6390+15G>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.*64493C>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-64637201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637201
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637201
    reference: chr 14
allele count: 1
allele frequency: 1.669672076404194e-5
allele num: 59892
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.*64487C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6390+21G>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.6390+21G>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.16719+162G>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.7137+21G>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+64487C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2121+21G>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.990+21G>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.17235+21G>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.17235+21G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8430
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-64637207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637207
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637207
    reference: chr 14
allele count: 1
allele frequency: 1.827819411442149e-5
allele num: 54710
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.*64481C>T
  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.16719+168G>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.17235+27G>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.990+27G>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+64481C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6390+27G>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.7137+27G>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.6390+27G>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.2121+27G>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.17235+27G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-64637208-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637208
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637208
    reference: chr 14
allele count: 1
allele frequency: 1.818380186929483e-5
allele num: 54994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6390+28A>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.*64480T>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.6390+28A>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.990+28A>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.2121+28A>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.17235+28A>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.7137+28A>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+64480T>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.16719+169A>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.17235+28A>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum

14-64637214-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637214
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637214
    reference: chr 14
allele count: 1
allele frequency: 2.011991469156171e-5
allele num: 49702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6390+34A>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.2121+34A>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+64474T>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.16719+175A>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.17235+34A>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.6390+34A>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.*64474T>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7137+34A>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.990+34A>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.17235+34A>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-64637223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637223
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637223
    reference: chr 14
allele count: 1
allele frequency: 2.433208428633997e-5
allele num: 41098
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.17235+43A>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.2121+43A>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.7137+43A>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.16719+184A>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+64465T>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.6390+43A>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.6390+43A>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.17235+43A>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.*64465T>C
  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.990+43A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-64637231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64637231
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64637231
    reference: chr 14
allele count: 29
allele frequency: 8.020798760924881e-4
allele num: 36156
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.6390+51C>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+64457G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7137+51C>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.16719+192C>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.6390+51C>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.*64457G>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.17235+51C>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.17235+51C>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.2121+51C>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.990+51C>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26287
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

14-64640581-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640581
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640581
    reference: chr 14
allele count: 1
allele frequency: 1.495662578522285e-4
allele num: 6686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+61107A>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.16720-36T>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.6391-1081T>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.6391-1081T>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.2122-1081T>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.991-1081T>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.*61107A>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7138-1081T>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.17236-1081T>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.17236-1081T>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/14-64640595-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640595
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640595
    reference: chr 14
allele count: 1
allele frequency: 1.398601398601399e-4
allele num: 7150
alternate allele: A
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.2122-1067C>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.17236-1067C>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.6391-1067C>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.16720-22C>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.*61093G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6391-1067C>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.991-1067C>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+61093G>T
  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.17236-1067C>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.7138-1067C>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

14-64640654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640654
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640654
    reference: chr 14
allele count: 1
allele frequency: 9.476876421531463e-5
allele num: 10552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6391-1008A>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.17236-1008A>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.2122-1008A>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.16757A>G
  hgvsp: ENSP00000452570.1:p.Lys5586Arg
  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+61034T>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.6391-1008A>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.7138-1008A>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.991-1008A>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.*61034T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.17236-1008A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys5586Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-64640665-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640665
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640665
    reference: chr 14
allele count: 2624
allele frequency: 2.457389024161828e-1
allele num: 10678
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.*61023G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.2122-997C>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+61023G>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.6391-997C>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.7138-997C>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.6391-997C>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.17236-997C>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.16768C>G
  hgvsp: ENSP00000452570.1:p.Leu5590Val
  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.17236-997C>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.991-997C>G
  variant of: http://identifiers.org/hgnc/17084
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 392
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.75e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.25e1
  variant carriers: 313
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 32
hgvs: p.Leu5590Val
num of homozygotes: 338
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

14-64640668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640668
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640668
    reference: chr 14
allele count: 6
allele frequency: 5.631687629059508e-4
allele num: 10654
alternate allele: T
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.2122-994C>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.16771C>T
  hgvsp: ENSP00000452570.1:p.Arg5591Cys
  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.6391-994C>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.*61020G>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.6391-994C>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.7138-994C>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+61020G>A
  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.17236-994C>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.991-994C>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.17236-994C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg5591Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-64640685-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640685
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640685
    reference: chr 14
allele count: 1
allele frequency: 9.412650602409639e-5
allele num: 10624
alternate allele: G
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.2122-977T>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.6391-977T>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.6391-977T>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.*61003A>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+61003A>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16788T>G
  hgvsp: ENST00000554584.1:c.16788T>G(p.%3D)
  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.17236-977T>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.991-977T>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.7138-977T>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.17236-977T>G
  variant of: http://identifiers.org/hgnc/17084
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Thr5596Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

14-64640697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640697
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640697
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 10542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+60991C>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.6391-965G>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.17236-965G>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.991-965G>A
  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.16800G>A
  hgvsp: ENST00000554584.1:c.16800G>A(p.%3D)
  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.7138-965G>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.17236-965G>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.2122-965G>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.*60991C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.6391-965G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala5600Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

14-64640721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640721
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640721
    reference: chr 14
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.6391-941C>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.*60967G>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.6391-941C>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.2122-941C>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.17236-941C>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+60967G>A
  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.991-941C>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.7138-941C>T
  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.16824C>T
  hgvsp: ENST00000554584.1:c.16824C>T(p.%3D)
  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.17236-941C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His5608His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

14-64640731-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640731
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640731
    reference: chr 14
allele count: 1
allele frequency: 1.02880658436214e-4
allele num: 9720
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.6391-931A>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.2122-931A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.16830+4A>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.*60957T>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.17236-931A>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.991-931A>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.17236-931A>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.6391-931A>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.7138-931A>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+60957T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: c.16830+4A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

14-64640751-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640751
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640751
    reference: chr 14
allele count: 5
allele frequency: 5.904581955597543e-4
allele num: 8468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.7138-911A>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.6391-911A>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.*60937T>A
  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.991-911A>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.17236-911A>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.16830+24A>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.6391-911A>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.2122-911A>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.17236-911A>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+60937T>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

14-64640768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640768
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640768
    reference: chr 14
allele count: 142
allele frequency: 2.367455818606202e-2
allele num: 5998
alternate allele: T
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.2122-894C>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.6391-894C>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.7138-894C>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+60920G>A
  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.991-894C>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.16830+41C>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.*60920G>A
  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.17236-894C>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.6391-894C>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.17236-894C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 2
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

14-64640774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64640774
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64640774
    reference: chr 14
allele count: 2
allele frequency: 4.003202562049639e-4
allele num: 4996
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.17236-888C>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.6391-888C>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.7138-888C>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.17236-888C>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.6391-888C>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.2122-888C>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.*60914G>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.16830+47C>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+60914G>A
  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.991-888C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 39893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6152
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2188
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.473e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.846539e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.053e0

VQSLOD
type: SiteQuality
SIO_000300: -1.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 519
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8185
bin: 9.75e1
variant carriers: 60

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 17
allele frequency: 1.4690632561355e-3
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.996793431028799e-4
allele num: 66738
num of homozygotes: 0

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

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

African
type: Population
allele count: 23
allele frequency: 2.210688196847366e-3
allele num: 10404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.850627e6

FS
type: SiteQuality
SIO_000300: 1.973e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.907e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8138
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1852
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.046e0

FS
type: SiteQuality
SIO_000300: 1.333e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.847339e6

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

GenotypeQuality
all individuals: 8142
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39899
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 7
allele frequency: 6.728181468665898e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

QD
type: SiteQuality
SIO_000300: 1.12e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
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SIO_000300: 5.73e-1

ClippingRankSum
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DP
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ReadPosRankSum
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SIO_000300: -8.3e-2

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
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allele frequency: 7.26832222895215e-4
allele num: 16510
num of homozygotes: 0

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

African
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allele frequency: 1.922337562475971e-4
allele num: 10404
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East Asian
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Latino
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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SIO_000300: 2.07e0

ReadPosRankSum
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MQ
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QD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 66738
num of homozygotes: 0

Other
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num of homozygotes: 0

African
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East Asian
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South Asian
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European (Finnish)
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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QD
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DP
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SIO_000300: 1.847772e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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ClippingRankSum
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66738
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Other
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East Asian
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African
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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QD
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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Latino
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European (Finnish)
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South Asian
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East Asian
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
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African
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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Latino
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QD
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DP
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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Other
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South Asian
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FS
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
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allele 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: 6612
num of homozygotes: 0

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

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

Latino
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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

MQ
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SIO_000300: 5.957e1

MQRankSum
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SIO_000300: 1.44e0

BaseQRankSum
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SIO_000300: -1.978e0

FS
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QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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SIO_000300: -1.042e0

DP
type: SiteQuality
SIO_000300: 1.848768e6

ClippingRankSum
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SIO_000300: 1.94e0

ReadPosRankSum
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SIO_000300: -1.665e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.746e0

ReadPosRankSum
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SIO_000300: 1.49e0

MQRankSum
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SIO_000300: 1.75e0

QD
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VQSLOD
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SIO_000300: 1.64e-1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.596e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

European (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: -4.657e0

MQ
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SIO_000300: 5.954e1

ReadPosRankSum
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SIO_000300: -1.059e0

InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: 9.389999999999999e-1

FS
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SIO_000300: 1.209e0

QD
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SIO_000300: 1.649e1

DP
type: SiteQuality
SIO_000300: 1.84813e6

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.846094e6

QD
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SIO_000300: 1.427e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
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SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
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SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17
allele frequency: 2.550102004080163e-4
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215509906405737e-4
allele num: 16454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
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SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.846972e6

BaseQRankSum
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SIO_000300: -2.114e0

FS
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VQSLOD
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MQRankSum
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SIO_000300: 2.1e-2

ReadPosRankSum
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QD
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SIO_000300: 1.159e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11536
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
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
allele num: 10380
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.96e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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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 (Finnish)
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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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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

BaseQRankSum
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FS
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MQRankSum
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QD
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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South Asian
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allele frequency: 6.086427267194157e-5
allele num: 16430
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 5.88e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.244e-1

DP
type: SiteQuality
SIO_000300: 1.84324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1251
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GenotypeQuality
all individuals: 519
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.669e0

QD
type: SiteQuality
SIO_000300: 1.315e1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.842943e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

DP
type: SiteQuality
SIO_000300: 1.842234e6

FS
type: SiteQuality
SIO_000300: 7.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 1252
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003453972067878e-5
allele num: 66590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2324e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: -1.742e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.432e0

DP
type: SiteQuality
SIO_000300: 1.841808e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 182
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8134
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.512696457012351e-5
allele num: 66554
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: 10350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.839901e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 9.413e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

BaseQRankSum
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SIO_000300: -2.692e0

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.353441608662026e-3
allele num: 10344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.089e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
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SIO_000300: 5.969e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.094e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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FS
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.834329e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520250723240116e-5
allele num: 66368
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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MQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

DP
type: SiteQuality
SIO_000300: 1.831035e6

FS
type: SiteQuality
SIO_000300: 1.352e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

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

African
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allele frequency: 0.0e0
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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
allele num: 888
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.535626535626536e-4
allele num: 6512
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: -1.08e-1

QD
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DP
type: SiteQuality
SIO_000300: 1.827348e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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 frequency: 7.548765022042393e-5
allele num: 66236
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16296
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European (Finnish)
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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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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.832e0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531112199902009e-5
allele num: 65312
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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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

Other
type: Population
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

DP
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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SIO_000300: 4.4157e1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8538
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
allele num: 10006
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: 4
allele frequency: 6.200973552847798e-5
allele num: 64506
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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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 4.183e0

ClippingRankSum
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SIO_000300: -4.63e-1

DP
type: SiteQuality
SIO_000300: 1.757136e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 64396
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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South Asian
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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 frequency: 0.0e0
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Other
type: Population
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MQ
type: SiteQuality
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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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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele frequency: 9.3455032553503e-5
allele num: 64202
num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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African
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele num: 10410
num of homozygotes: 0

Other
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FS
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DP
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BaseQRankSum
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SIO_000300: -2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.3e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1468
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6658
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8122
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1969
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variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
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GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
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GenotypeQuality
all individuals: 1365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.223310985043837e-4
allele num: 15512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

DP
type: SiteQuality
SIO_000300: 1.707259e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeDepth
all individuals: 272
bin: 8.75e1
variant carriers: 92

GenotypeQuality
all individuals: 434
bin: 4.25e1
variant carriers: 164

GenotypeQuality
all individuals: 186
bin: 1.25e1
variant carriers: 70

GenotypeQuality
all individuals: 782
bin: 2.75e1
variant carriers: 97

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 279

GenotypeQuality
all individuals: 513
bin: 9.25e1
variant carriers: 436

GenotypeQuality
all individuals: 677
bin: 4.75e1
variant carriers: 328

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 62

GenotypeQuality
all individuals: 663
bin: 3.75e1
variant carriers: 212

GenotypeQuality
all individuals: 842
bin: 5.25e1
variant carriers: 405

GenotypeQuality
all individuals: 266
bin: 2.5e0
variant carriers: 47

GenotypeQuality
all individuals: 590
bin: 5.75e1
variant carriers: 264

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 64

GenotypeQuality
all individuals: 1590
bin: 6.75e1
variant carriers: 484

GenotypeQuality
all individuals: 544
bin: 7.25e1
variant carriers: 312

GenotypeQuality
all individuals: 13314
bin: 6.25e1
variant carriers: 496

GenotypeQuality
all individuals: 31010
bin: 9.75e1
variant carriers: 28095

GenotypeQuality
all individuals: 6392
bin: 2.25e1
variant carriers: 95

GenotypeQuality
all individuals: 794
bin: 3.25e1
variant carriers: 156

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 521

GenotypeQuality
all individuals: 791
bin: 7.75e1
variant carriers: 563

Other
type: Population
allele count: 274
allele frequency: 3.193473193473194e-1
allele num: 858
num of homozygotes: 40

European (Non-Finnish)
type: Population
allele count: 20937
allele frequency: 3.388960828747167e-1
allele num: 61780
num of homozygotes: 3213

European (Finnish)
type: Population
allele count: 2141
allele frequency: 3.577874331550802e-1
allele num: 5984
num of homozygotes: 344

East Asian
type: Population
allele count: 4811
allele frequency: 5.817412333736397e-1
allele num: 8270
num of homozygotes: 1357

South Asian
type: Population
allele count: 4660
allele frequency: 3.018134715025907e-1
allele num: 15440
num of homozygotes: 693

Latino
type: Population
allele count: 2891
allele frequency: 2.823793709708928e-1
allele num: 10238
num of homozygotes: 338

African
type: Population
allele count: 3676
allele frequency: 3.813278008298755e-1
allele num: 9640
num of homozygotes: 668

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.184072e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.569e0

QD
type: SiteQuality
SIO_000300: 1.771e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19293
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variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23807
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variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6582
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 185
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.133626186764914e-3
allele num: 14114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6894
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 1.510339e6

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
all individuals: 6573
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 1914
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variant carriers: 0

GenotypeQuality
all individuals: 21016
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variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
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variant carriers: 0

GenotypeQuality
all individuals: 21937
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variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.913143294432753e-5
allele num: 52270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13848
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 1.458919e6

QD
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -3.242e0

GenotypeQuality
all individuals: 999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12935
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variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
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variant carriers: 0

GenotypeQuality
all individuals: 434
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variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 6571
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 317
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.479471120389701e-4
allele num: 5748
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

DP
type: SiteQuality
SIO_000300: 1.311485e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.063e1

GenotypeQuality
all individuals: 2343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 1193
bin: 3.75e1
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GenotypeQuality
all individuals: 6570
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variant carriers: 1

GenotypeQuality
all individuals: 29522
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GenotypeQuality
all individuals: 1486
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GenotypeQuality
all individuals: 399
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GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 480
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variant carriers: 0

GenotypeQuality
all individuals: 1081
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GenotypeQuality
all individuals: 303
bin: 5.75e1
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GenotypeQuality
all individuals: 99
bin: 8.75e1
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GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 12383
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GenotypeQuality
all individuals: 2586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.161227577263886e-5
allele num: 46270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.301939e6

GenotypeQuality
all individuals: 1106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 6410
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GenotypeQuality
all individuals: 2473
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GenotypeQuality
all individuals: 892
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GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 335
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GenotypeQuality
all individuals: 3306
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GenotypeQuality
all individuals: 276
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GenotypeQuality
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 6567
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 2939
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GenotypeQuality
all individuals: 894
bin: 6.75e1
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GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.438631291842301e-5
allele num: 40330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 2.631e0

DP
type: SiteQuality
SIO_000300: 1.174133e6

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6103
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variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 6565
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GenotypeQuality
all individuals: 1078
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GenotypeQuality
all individuals: 1324
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GenotypeQuality
all individuals: 2343
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GenotypeQuality
all individuals: 443
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GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 626
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GenotypeQuality
all individuals: 199
bin: 4.75e1
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GenotypeQuality
all individuals: 180
bin: 5.25e1
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GenotypeQuality
all individuals: 32605
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 8.692628650904033e-5
allele num: 11504
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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Other
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QD
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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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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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FS
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.103662321539417e-5
allele num: 32220
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (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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Latino
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allele num: 3178
num of homozygotes: 0

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

Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
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SIO_000300: -2.89e-1

MQRankSum
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DP
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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SIO_000300: -2.23e-2

BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 29376
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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num of homozygotes: 0

African
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 26222
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East Asian
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InbreedingCoeff
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QD
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FS
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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East Asian
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South Asian
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African
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
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African
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East Asian
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: NaN
allele num: 0
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
allele num: 1742
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 8.771929824561403e-3
allele num: 114
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African
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allele frequency: 0.0e0
allele num: 152
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -3.23e-2

ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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MQ
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SIO_000300: 6.0e1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1842
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 2.047502047502048e-4
allele num: 4884
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 4.33e-1

BaseQRankSum
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MQ
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.048e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -9.216e-1

ClippingRankSum
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DP
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QD
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MQRankSum
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SIO_000300: -3.96e-1

InbreedingCoeff
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SIO_000300: -2.63e-2

MQ
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SIO_000300: 5.895e1

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12

South Asian
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allele count: 1745
allele frequency: 2.333511634126772e-1
allele num: 7478
num of homozygotes: 221

Other
type: Population
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allele frequency: 2.241379310344828e-1
allele num: 116
num of homozygotes: 3

Latino
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allele frequency: 2.5e-1
allele num: 92
num of homozygotes: 3

East Asian
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allele count: 36
allele frequency: 2.686567164179104e-1
allele num: 134
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African
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allele count: 29
allele frequency: 1.542553191489362e-1
allele num: 188
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 765
allele frequency: 2.865168539325842e-1
allele num: 2670
num of homozygotes: 107

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.39e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ReadPosRankSum
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SIO_000300: 3.58e-1

VQSLOD
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DP
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MQ
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SIO_000300: 5.92e1

QD
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SIO_000300: 1.185e1

FS
type: SiteQuality
SIO_000300: 1.134e0

BaseQRankSum
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SIO_000300: -1.296e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 8.620689655172414e-3
allele num: 116
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
allele num: 92
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7462
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 2.659574468085106e-2
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.427e0

VQSLOD
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SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.35347e5

ClippingRankSum
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SIO_000300: -3.4e-1

InbreedingCoeff
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SIO_000300: -2.16e-2

BaseQRankSum
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MQRankSum
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SIO_000300: -2.69e-1

QD
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SIO_000300: 1.112e1

MQ
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SIO_000300: 5.938e1

ReadPosRankSum
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SIO_000300: 5.03e-1

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

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

East Asian
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allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 90
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2656
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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SIO_000300: 9.292e0

BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.416029453412631e-4
allele num: 7062
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European (Non-Finnish)
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Other
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 18
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.475361463558572e-4
allele num: 6778
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.244e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

DP
type: SiteQuality
SIO_000300: 1.06683e5

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 2591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 2.325581395348837e-2
allele num: 172
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.0e-2
allele num: 100
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.318e0

DP
type: SiteQuality
SIO_000300: 7.3537e4

QD
type: SiteQuality
SIO_000300: 1.007e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 307
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 48
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 470
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 354
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 115
bin: 9.75e1
variant carriers: 115

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

South Asian
type: Population
allele count: 104
allele frequency: 2.566633761105627e-2
allele num: 4052
num of homozygotes: 2

African
type: Population
allele count: 7
allele frequency: 5.64516129032258e-2
allele num: 124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.5625e-2
allele num: 64
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 1.884422110552764e-2
allele num: 1592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 6.101e4

QD
type: SiteQuality
SIO_000300: 1.063e1