9-36218269-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218269
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218269
    reference: chr 9
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14093G>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1844C>G
  hgvsp: ENSP00000439155.1:p.Ser615Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1844C>G
  hgvsp: ENSP00000367134.4:p.Ser615Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1622C>G
  hgvsp: ENSP00000414760.2:p.Ser541Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1829C>G
  hgvsp: ENSP00000437765.2:p.Ser610Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1937C>G
  hgvsp: ENSP00000379839.3:p.Ser646Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1514C>G
  hgvsp: ENSP00000445117.1:p.Ser505Ter
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser646Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-36218290-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218290
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218290
    reference: chr 9
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1601T>C
  hgvsp: ENSP00000414760.2:p.Leu534Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1823T>C
  hgvsp: ENSP00000367134.4:p.Leu608Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1493T>C
  hgvsp: ENSP00000445117.1:p.Leu498Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1823T>C
  hgvsp: ENSP00000439155.1:p.Leu608Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1808T>C
  hgvsp: ENSP00000437765.2:p.Leu603Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1916T>C
  hgvsp: ENSP00000379839.3:p.Leu639Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14114A>G
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu639Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-36218296-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218296
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218296
    reference: chr 9
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1817A>G
  hgvsp: ENSP00000367134.4:p.Glu606Gly
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1595A>G
  hgvsp: ENSP00000414760.2:p.Glu532Gly
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1910A>G
  hgvsp: ENSP00000379839.3:p.Glu637Gly
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1817A>G
  hgvsp: ENSP00000439155.1:p.Glu606Gly
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1487A>G
  hgvsp: ENSP00000445117.1:p.Glu496Gly
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1802A>G
  hgvsp: ENSP00000437765.2:p.Glu601Gly
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14120T>C
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu637Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-36218303-AGAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218303
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218299
    reference: chr 9
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14131_485+14134delTGAG
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1487-11_1487-8delACTC
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1595-11_1595-8delACTC
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1817-11_1817-8delACTC
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1802-11_1802-8delACTC
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1910-11_1910-8delACTC
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1817-11_1817-8delACTC
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1910-11_1910-8delACTC
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: AGAGT
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

9-36218308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218308
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218308
    reference: chr 9
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14132G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1817-12C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1802-12C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1817-12C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1910-12C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1595-12C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1487-12C>T
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

9-36218327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218327
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218327
    reference: chr 9
allele count: 4
allele frequency: 3.318565715897589e-5
allele num: 120534
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1910-31A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1487-31A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14151T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1817-31A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1595-31A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1817-31A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1802-31A>G
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-36218329-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218329
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218329
    reference: chr 9
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1802-33T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1487-33T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1910-33T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14153A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1817-33T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1595-33T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1817-33T>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

9-36218348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36218348
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36218348
    reference: chr 9
allele count: 2
allele frequency: 1.670564650851988e-5
allele num: 119720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1487-52T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1802-52T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+14172A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1817-52T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1910-52T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1817-52T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1595-52T>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8420
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

9-36219786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219786
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219786
    reference: chr 9
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+49A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+49A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+49A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15610T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+49A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+49A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+49A>G
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-36219802-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219802
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219802
    reference: chr 9
allele count: 23
allele frequency: 1.895781474093734e-4
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+33C>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15626G>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+33C>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+33C>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+33C>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+33C>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+33C>G
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

9-36219803-GTTAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219803
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219799
    reference: chr 9
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+28_1816+31delGTAA
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+28_1594+31delGTAA
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+28_1801+31delGTAA
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+28_1486+31delGTAA
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+28_1816+31delGTAA
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+28_1909+31delGTAA
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15631_485+15634delCTTA
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: GTTAC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

9-36219803-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219803
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219803
    reference: chr 9
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+32C>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+32C>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15627G>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+32C>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+32C>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+32C>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+32C>A
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

9-36219806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219806
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219806
    reference: chr 9
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+29T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+29T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+29T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15630A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+29T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+29T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+29T>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

9-36219807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219807
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219807
    reference: chr 9
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+28G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+28G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+28G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+28G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15631C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+28G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+28G>A
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

9-36219817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219817
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219817
    reference: chr 9
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15641C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+18G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+18G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+18G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+18G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+18G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+18G>A
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17695
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

9-36219818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219818
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219818
    reference: chr 9
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15642G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+17C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+17C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+17C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+17C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+17C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+17C>T
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

9-36219831-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219831
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219831
    reference: chr 9
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816+4G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15655C>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801+4G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486+4G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816+4G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594+4G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909+4G>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1909+4G>C
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

9-36219835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219835
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219835
    reference: chr 9
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1486G>A
  hgvsp: ENSP00000445117.1:p.Glu496Lys
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1816G>A
  hgvsp: ENSP00000367134.4:p.Glu606Lys
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1801G>A
  hgvsp: ENSP00000437765.2:p.Glu601Lys
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15659C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1594G>A
  hgvsp: ENSP00000414760.2:p.Glu532Lys
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1909G>A
  hgvsp: ENSP00000379839.3:p.Glu637Lys
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1816G>A
  hgvsp: ENSP00000439155.1:p.Glu606Lys
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu637Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

9-36219840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219840
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219840
    reference: chr 9
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1796A>G
  hgvsp: ENSP00000437765.2:p.His599Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1811A>G
  hgvsp: ENSP00000367134.4:p.His604Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1589A>G
  hgvsp: ENSP00000414760.2:p.His530Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15664T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1904A>G
  hgvsp: ENSP00000379839.3:p.His635Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1481A>G
  hgvsp: ENSP00000445117.1:p.His494Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1811A>G
  hgvsp: ENSP00000439155.1:p.His604Arg
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His635Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

9-36219844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219844
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219844
    reference: chr 9
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15668G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1792C>T
  hgvsp: ENSP00000437765.2:p.Leu598Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1900C>T
  hgvsp: ENSP00000379839.3:p.Leu634Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1477C>T
  hgvsp: ENSP00000445117.1:p.Leu493Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1807C>T
  hgvsp: ENSP00000367134.4:p.Leu603Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1585C>T
  hgvsp: ENSP00000414760.2:p.Leu529Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1807C>T
  hgvsp: ENSP00000439155.1:p.Leu603Phe
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu634Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

9-36219854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219854
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219854
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15678C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1467G>A
  hgvsp: ENST00000539208.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1797G>A
  hgvsp: ENST00000539815.1:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1575G>A
  hgvsp: ENST00000447283.2:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1797G>A
  hgvsp: ENST00000377902.5:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1782G>A
  hgvsp: ENST00000543356.2:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1890G>A
  hgvsp: ENST00000396594.3:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu630Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/9-36219856-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219856
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219856
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1888G>T
  hgvsp: ENSP00000379839.3:p.Glu630Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1795G>T
  hgvsp: ENSP00000439155.1:p.Glu599Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1780G>T
  hgvsp: ENSP00000437765.2:p.Glu594Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1573G>T
  hgvsp: ENSP00000414760.2:p.Glu525Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1795G>T
  hgvsp: ENSP00000367134.4:p.Glu599Ter
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15680C>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1465G>T
  hgvsp: ENSP00000445117.1:p.Glu489Ter
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu630Ter
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

9-36219866-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219866
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219866
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1785C>A
  hgvsp: ENST00000377902.5:c.1785C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1455C>A
  hgvsp: ENST00000539208.1:c.1455C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1785C>A
  hgvsp: ENST00000539815.1:c.1785C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1770C>A
  hgvsp: ENST00000543356.2:c.1770C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1878C>A
  hgvsp: ENST00000396594.3:c.1878C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1563C>A
  hgvsp: ENST00000447283.2:c.1563C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15690G>T
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala626Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-36219872-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219872
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219872
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1779A>G
  hgvsp: ENST00000377902.5:c.1779A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1449A>G
  hgvsp: ENST00000539208.1:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15696T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1872A>G
  hgvsp: ENST00000396594.3:c.1872A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1557A>G
  hgvsp: ENST00000447283.2:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1764A>G
  hgvsp: ENST00000543356.2:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1779A>G
  hgvsp: ENST00000539815.1:c.1779A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17700
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly624Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-36219880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219880
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219880
    reference: chr 9
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15704C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1756G>A
  hgvsp: ENSP00000437765.2:p.Ala586Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1771G>A
  hgvsp: ENSP00000367134.4:p.Ala591Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1864G>A
  hgvsp: ENSP00000379839.3:p.Ala622Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1771G>A
  hgvsp: ENSP00000439155.1:p.Ala591Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1441G>A
  hgvsp: ENSP00000445117.1:p.Ala481Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1549G>A
  hgvsp: ENSP00000414760.2:p.Ala517Thr
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17698
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala622Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

9-36219881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219881
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219881
    reference: chr 9
allele count: 2349
allele frequency: 1.934734622607321e-2
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1755C>T
  hgvsp: ENST00000543356.2:c.1755C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1863C>T
  hgvsp: ENST00000396594.3:c.1863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1440C>T
  hgvsp: ENST00000539208.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1548C>T
  hgvsp: ENST00000447283.2:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1770C>T
  hgvsp: ENST00000377902.5:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15705G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1770C>T
  hgvsp: ENST00000539815.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 9.75e1
  variant carriers: 1328
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 16316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr621Tyr
num of homozygotes: 28
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

9-36219884-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219884
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219884
    reference: chr 9
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1860A>G
  hgvsp: ENST00000396594.3:c.1860A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1437A>G
  hgvsp: ENST00000539208.1:c.1437A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1752A>G
  hgvsp: ENST00000543356.2:c.1752A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1767A>G
  hgvsp: ENST00000377902.5:c.1767A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1545A>G
  hgvsp: ENST00000447283.2:c.1545A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15708T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1767A>G
  hgvsp: ENST00000539815.1:c.1767A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala620Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-36219891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219891
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219891
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1538T>C
  hgvsp: ENSP00000414760.2:p.Ile513Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15715A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1430T>C
  hgvsp: ENSP00000445117.1:p.Ile477Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1760T>C
  hgvsp: ENSP00000367134.4:p.Ile587Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1745T>C
  hgvsp: ENSP00000437765.2:p.Ile582Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1760T>C
  hgvsp: ENSP00000439155.1:p.Ile587Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1853T>C
  hgvsp: ENSP00000379839.3:p.Ile618Thr
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile618Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-36219909-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219909
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219909
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1520G>T
  hgvsp: ENSP00000414760.2:p.Cys507Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15733C>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1835G>T
  hgvsp: ENSP00000379839.3:p.Cys612Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1412G>T
  hgvsp: ENSP00000445117.1:p.Cys471Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1727G>T
  hgvsp: ENSP00000437765.2:p.Cys576Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1742G>T
  hgvsp: ENSP00000439155.1:p.Cys581Phe
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1742G>T
  hgvsp: ENSP00000367134.4:p.Cys581Phe
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys612Phe
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

9-36219919-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219919
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219919
    reference: chr 9
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1732G>C
  hgvsp: ENSP00000439155.1:p.Asp578His
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1717G>C
  hgvsp: ENSP00000437765.2:p.Asp573His
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1732G>C
  hgvsp: ENSP00000367134.4:p.Asp578His
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15743C>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1402G>C
  hgvsp: ENSP00000445117.1:p.Asp468His
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1510G>C
  hgvsp: ENSP00000414760.2:p.Asp504His
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1825G>C
  hgvsp: ENSP00000379839.3:p.Asp609His
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp609His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

9-36219924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219924
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219924
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1727G>A
  hgvsp: ENSP00000367134.4:p.Gly576Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1397G>A
  hgvsp: ENSP00000445117.1:p.Gly466Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1505G>A
  hgvsp: ENSP00000414760.2:p.Gly502Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1712G>A
  hgvsp: ENSP00000437765.2:p.Gly571Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1727G>A
  hgvsp: ENSP00000439155.1:p.Gly576Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15748C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1820G>A
  hgvsp: ENSP00000379839.3:p.Gly607Glu
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly607Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-36219935-CACA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219935
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219932
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1713_1715delTGT
  hgvsp: ENSP00000439155.1:p.Val572del
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1491_1493delTGT
  hgvsp: ENSP00000414760.2:p.Val498del
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1806_1808delTGT
  hgvsp: ENSP00000379839.3:p.Val603del
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1698_1700delTGT
  hgvsp: ENSP00000437765.2:p.Val567del
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1713_1715delTGT
  hgvsp: ENSP00000367134.4:p.Val572del
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1383_1385delTGT
  hgvsp: ENSP00000445117.1:p.Val462del
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15764_485+15766delCAA
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val603del
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: CACA
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-36219937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219937
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219937
    reference: chr 9
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15761C>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1714G>C
  hgvsp: ENSP00000439155.1:p.Val572Leu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1807G>C
  hgvsp: ENSP00000379839.3:p.Val603Leu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1384G>C
  hgvsp: ENSP00000445117.1:p.Val462Leu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1714G>C
  hgvsp: ENSP00000367134.4:p.Val572Leu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1492G>C
  hgvsp: ENSP00000414760.2:p.Val498Leu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1699G>C
  hgvsp: ENSP00000437765.2:p.Val567Leu
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val603Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

9-36219942-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219942
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219942
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1379T>C
  hgvsp: ENSP00000445117.1:p.Leu460Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1802T>C
  hgvsp: ENSP00000379839.3:p.Leu601Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15766A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1709T>C
  hgvsp: ENSP00000367134.4:p.Leu570Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1487T>C
  hgvsp: ENSP00000414760.2:p.Leu496Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1694T>C
  hgvsp: ENSP00000437765.2:p.Leu565Pro
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1709T>C
  hgvsp: ENSP00000439155.1:p.Leu570Pro
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu601Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

9-36219943-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219943
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219943
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1486C>G
  hgvsp: ENSP00000414760.2:p.Leu496Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1693C>G
  hgvsp: ENSP00000437765.2:p.Leu565Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1708C>G
  hgvsp: ENSP00000367134.4:p.Leu570Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1378C>G
  hgvsp: ENSP00000445117.1:p.Leu460Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15767G>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1708C>G
  hgvsp: ENSP00000439155.1:p.Leu570Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1801C>G
  hgvsp: ENSP00000379839.3:p.Leu601Val
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu601Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-36219962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219962
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219962
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1467T>C
  hgvsp: ENST00000447283.2:c.1467T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1782T>C
  hgvsp: ENST00000396594.3:c.1782T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1674T>C
  hgvsp: ENST00000543356.2:c.1674T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1359T>C
  hgvsp: ENST00000539208.1:c.1359T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1689T>C
  hgvsp: ENST00000539815.1:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1689T>C
  hgvsp: ENST00000377902.5:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15786A>G
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys594Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/9-36219970-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219970
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219970
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15794A>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1351T>G
  hgvsp: ENSP00000445117.1:p.Ser451Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1681T>G
  hgvsp: ENSP00000367134.4:p.Ser561Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1774T>G
  hgvsp: ENSP00000379839.3:p.Ser592Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1459T>G
  hgvsp: ENSP00000414760.2:p.Ser487Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1681T>G
  hgvsp: ENSP00000439155.1:p.Ser561Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1666T>G
  hgvsp: ENSP00000437765.2:p.Ser556Ala
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser592Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

9-36219976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219976
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219976
    reference: chr 9
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1660G>A
  hgvsp: ENSP00000437765.2:p.Gly554Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1675G>A
  hgvsp: ENSP00000439155.1:p.Gly559Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15800C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1675G>A
  hgvsp: ENSP00000367134.4:p.Gly559Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1768G>A
  hgvsp: ENSP00000379839.3:p.Gly590Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1345G>A
  hgvsp: ENSP00000445117.1:p.Gly449Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1453G>A
  hgvsp: ENSP00000414760.2:p.Gly485Arg
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17118
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly590Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

9-36219985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219985
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219985
    reference: chr 9
allele count: 5
allele frequency: 4.118412599047823e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1651T>C
  hgvsp: ENST00000543356.2:c.1651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1666T>C
  hgvsp: ENST00000539815.1:c.1666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1336T>C
  hgvsp: ENST00000539208.1:c.1336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1666T>C
  hgvsp: ENST00000377902.5:c.1666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1444T>C
  hgvsp: ENST00000447283.2:c.1444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15809A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1759T>C
  hgvsp: ENST00000396594.3:c.1759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17117
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu587Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

9-36219987-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219987
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219987
    reference: chr 9
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1649A>C
  hgvsp: ENSP00000437765.2:p.Glu550Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1664A>C
  hgvsp: ENSP00000439155.1:p.Glu555Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1664A>C
  hgvsp: ENSP00000367134.4:p.Glu555Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15811T>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1442A>C
  hgvsp: ENSP00000414760.2:p.Glu481Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1757A>C
  hgvsp: ENSP00000379839.3:p.Glu586Ala
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1334A>C
  hgvsp: ENSP00000445117.1:p.Glu445Ala
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17114
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu586Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/9-36219989-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219989
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219989
    reference: chr 9
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15813A>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1332T>G
  hgvsp: ENSP00000445117.1:p.His444Gln
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1662T>G
  hgvsp: ENSP00000367134.4:p.His554Gln
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1440T>G
  hgvsp: ENSP00000414760.2:p.His480Gln
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1647T>G
  hgvsp: ENSP00000437765.2:p.His549Gln
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1755T>G
  hgvsp: ENSP00000379839.3:p.His585Gln
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1662T>G
  hgvsp: ENSP00000439155.1:p.His554Gln
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His585Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

9-36219991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36219991
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36219991
    reference: chr 9
allele count: 12
allele frequency: 9.884353069091628e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1660C>T
  hgvsp: ENSP00000367134.4:p.His554Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1660C>T
  hgvsp: ENSP00000439155.1:p.His554Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1753C>T
  hgvsp: ENSP00000379839.3:p.His585Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15815G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1645C>T
  hgvsp: ENSP00000437765.2:p.His549Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1438C>T
  hgvsp: ENSP00000414760.2:p.His480Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1330C>T
  hgvsp: ENSP00000445117.1:p.His444Tyr
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His585Tyr
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-36220000-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220000
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220000
    reference: chr 9
allele count: 6
allele frequency: 4.942176534545814e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1636A>G
  hgvsp: ENSP00000437765.2:p.Ile546Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15824T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1321A>G
  hgvsp: ENSP00000445117.1:p.Ile441Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1744A>G
  hgvsp: ENSP00000379839.3:p.Ile582Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1651A>G
  hgvsp: ENSP00000439155.1:p.Ile551Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1429A>G
  hgvsp: ENSP00000414760.2:p.Ile477Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1651A>G
  hgvsp: ENSP00000367134.4:p.Ile551Val
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17114
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile582Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

9-36220013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220013
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220013
    reference: chr 9
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1623C>T
  hgvsp: ENST00000543356.2:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1416C>T
  hgvsp: ENST00000447283.2:c.1416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1638C>T
  hgvsp: ENST00000377902.5:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15837G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1731C>T
  hgvsp: ENST00000396594.3:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1638C>T
  hgvsp: ENST00000539815.1:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1308C>T
  hgvsp: ENST00000539208.1:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17108
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile577Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

9-36220015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220015
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220015
    reference: chr 9
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15839T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1636A>G
  hgvsp: ENSP00000439155.1:p.Ile546Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1621A>G
  hgvsp: ENSP00000437765.2:p.Ile541Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1414A>G
  hgvsp: ENSP00000414760.2:p.Ile472Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1636A>G
  hgvsp: ENSP00000367134.4:p.Ile546Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1306A>G
  hgvsp: ENSP00000445117.1:p.Ile436Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1729A>G
  hgvsp: ENSP00000379839.3:p.Ile577Val
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile577Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

9-36220024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220024
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220024
    reference: chr 9
allele count: 11
allele frequency: 9.068425391591096e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1619-7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1304-7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1634-7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1634-7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15848C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1412-7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1727-7G>A
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1727-7G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

9-36220025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220025
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220025
    reference: chr 9
allele count: 4
allele frequency: 3.297881111385935e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1304-8C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1727-8C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1634-8C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1619-8C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15849G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1412-8C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1634-8C>T
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 20390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1727-8C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

9-36220030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220030
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220030
    reference: chr 9
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1304-13T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15854A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1619-13T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1412-13T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1634-13T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1634-13T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1727-13T>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6796
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-36220045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220045
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220045
    reference: chr 9
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1619-28C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1304-28C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1727-28C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1634-28C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15869G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1634-28C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1412-28C>T
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17096
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-36220049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220049
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220049
    reference: chr 9
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1619-32G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1634-32G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1412-32G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1634-32G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15873C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1304-32G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1727-32G>A
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

9-36220060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36220060
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36220060
    reference: chr 9
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1619-43T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+15884A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1634-43T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1412-43T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1727-43T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1304-43T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1634-43T>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-36222729-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222729
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222729
    reference: chr 9
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+45T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18553A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+641T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+45T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+45T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+45T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+45T>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-36222737-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222737
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222737
    reference: chr 9
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+37A>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+37A>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+37A>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+633A>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+37A>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18561T>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+37A>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

9-36222747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222747
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222747
    reference: chr 9
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+27C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+27C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18571G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+27C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+623C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+27C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+27C>T
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

9-36222760-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222760
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222760
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18584C>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+14G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+14G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+14G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+14G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+610G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+14G>C
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

9-36222763-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222763
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222763
    reference: chr 9
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+11T>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+11T>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+11T>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+11T>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18587A>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+11T>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+607T>A
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-36222766-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222766
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222764
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+6_1303+7delAG
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+602_1411+603delAG
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+6_1726+7delAG
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+6_1633+7delAG
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+6_1633+7delAG
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+6_1618+7delAG
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18593_485+18594delCT
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1726+6_1726+7delAG
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: CCT
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

9-36222767-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222767
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222767
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+7G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+7G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+7G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+7G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+603G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+7G>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18591C>G
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1726+7G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-36222767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222767
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222767
    reference: chr 9
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18591C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1618+7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+603G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1633+7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1633+7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1726+7G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1303+7G>A
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1726+7G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

9-36222785-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222785
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222785
    reference: chr 9
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1292T>C
  hgvsp: ENSP00000445117.1:p.Ile431Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18609A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+585T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1622T>C
  hgvsp: ENSP00000367134.4:p.Ile541Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1715T>C
  hgvsp: ENSP00000379839.3:p.Ile572Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1622T>C
  hgvsp: ENSP00000439155.1:p.Ile541Thr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1607T>C
  hgvsp: ENSP00000437765.2:p.Ile536Thr
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile572Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-36222787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222787
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222787
    reference: chr 9
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+583T>C
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1620T>C
  hgvsp: ENST00000539815.1:c.1620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18611A>G
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1620T>C
  hgvsp: ENST00000377902.5:c.1620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1713T>C
  hgvsp: ENST00000396594.3:c.1713T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1290T>C
  hgvsp: ENST00000539208.1:c.1290T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1605T>C
  hgvsp: ENST00000543356.2:c.1605T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu571Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

9-36222807-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222807
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222807
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1600C>G
  hgvsp: ENSP00000439155.1:p.Leu534Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1585C>G
  hgvsp: ENSP00000437765.2:p.Leu529Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1600C>G
  hgvsp: ENSP00000367134.4:p.Leu534Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1693C>G
  hgvsp: ENSP00000379839.3:p.Leu565Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18631G>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1270C>G
  hgvsp: ENSP00000445117.1:p.Leu424Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+563C>G
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11488
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu565Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

9-36222809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222809
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222809
    reference: chr 9
allele count: 11
allele frequency: 9.060059961124106e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18633C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1598G>A
  hgvsp: ENSP00000439155.1:p.Gly533Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1598G>A
  hgvsp: ENSP00000367134.4:p.Gly533Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1268G>A
  hgvsp: ENSP00000445117.1:p.Gly423Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1691G>A
  hgvsp: ENSP00000379839.3:p.Gly564Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+561G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1583G>A
  hgvsp: ENSP00000437765.2:p.Gly528Glu
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly564Glu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-36222813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222813
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222813
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+557A>G
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1594A>G
  hgvsp: ENSP00000367134.4:p.Lys532Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1264A>G
  hgvsp: ENSP00000445117.1:p.Lys422Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1594A>G
  hgvsp: ENSP00000439155.1:p.Lys532Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18637T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1579A>G
  hgvsp: ENSP00000437765.2:p.Lys527Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1687A>G
  hgvsp: ENSP00000379839.3:p.Lys563Glu
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys563Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

9-36222835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222835
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222835
    reference: chr 9
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1242G>A
  hgvsp: ENST00000539208.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1572G>A
  hgvsp: ENST00000377902.5:c.1572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18659C>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1665G>A
  hgvsp: ENST00000396594.3:c.1665G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+535G>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1572G>A
  hgvsp: ENST00000539815.1:c.1572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1557G>A
  hgvsp: ENST00000543356.2:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala555Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-36222836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222836
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222836
    reference: chr 9
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1664C>T
  hgvsp: ENSP00000379839.3:p.Ala555Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1571C>T
  hgvsp: ENSP00000439155.1:p.Ala524Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1241C>T
  hgvsp: ENSP00000445117.1:p.Ala414Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1556C>T
  hgvsp: ENSP00000437765.2:p.Ala519Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18660G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1571C>T
  hgvsp: ENSP00000367134.4:p.Ala524Val
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+534C>T
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala555Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

9-36222836-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222836
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222836
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1664C>A
  hgvsp: ENSP00000379839.3:p.Ala555Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1571C>A
  hgvsp: ENSP00000367134.4:p.Ala524Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18660G>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+534C>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1241C>A
  hgvsp: ENSP00000445117.1:p.Ala414Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1571C>A
  hgvsp: ENSP00000439155.1:p.Ala524Glu
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1556C>A
  hgvsp: ENSP00000437765.2:p.Ala519Glu
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala555Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

9-36222862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222862
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222862
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18686G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1215C>T
  hgvsp: ENST00000539208.1:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1545C>T
  hgvsp: ENST00000377902.5:c.1545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+508C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1530C>T
  hgvsp: ENST00000543356.2:c.1530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1638C>T
  hgvsp: ENST00000396594.3:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1545C>T
  hgvsp: ENST00000539815.1:c.1545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp546Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-36222877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222877
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222877
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1200C>A
  hgvsp: ENST00000539208.1:c.1200C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1623C>A
  hgvsp: ENST00000396594.3:c.1623C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1530C>A
  hgvsp: ENST00000539815.1:c.1530C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1530C>A
  hgvsp: ENST00000377902.5:c.1530C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18701G>T
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+493C>A
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1515C>A
  hgvsp: ENST00000543356.2:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu541Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

9-36222881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222881
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222881
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1526A>G
  hgvsp: ENSP00000439155.1:p.His509Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1511A>G
  hgvsp: ENSP00000437765.2:p.His504Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18705T>C
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1196A>G
  hgvsp: ENSP00000445117.1:p.His399Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1526A>G
  hgvsp: ENSP00000367134.4:p.His509Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1619A>G
  hgvsp: ENSP00000379839.3:p.His540Arg
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+489A>G
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His540Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

9-36222882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222882
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222882
    reference: chr 9
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1510C>T
  hgvsp: ENSP00000437765.2:p.His504Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1525C>T
  hgvsp: ENSP00000439155.1:p.His509Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1618C>T
  hgvsp: ENSP00000379839.3:p.His540Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1195C>T
  hgvsp: ENSP00000445117.1:p.His399Tyr
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+488C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18706G>A
  variant of: http://identifiers.org/hgnc/2090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1525C>T
  hgvsp: ENSP00000367134.4:p.His509Tyr
  variant of: http://identifiers.org/hgnc/23657
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His540Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

9-36222887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36222887
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 36222887
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000439155
  ensembl transcript: ENST00000539815
  gene symbol: GNE
  hgvsc: ENST00000539815.1:c.1520C>T
  hgvsp: ENSP00000439155.1:p.Thr507Ile
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000414760
  ensembl transcript: ENST00000447283
  gene symbol: GNE
  hgvsc: ENST00000447283.2:c.1411+483C>T
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000367134
  ensembl transcript: ENST00000377902
  gene symbol: GNE
  hgvsc: ENST00000377902.5:c.1520C>T
  hgvsp: ENSP00000367134.4:p.Thr507Ile
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000437765
  ensembl transcript: ENST00000543356
  gene symbol: GNE
  hgvsc: ENST00000543356.2:c.1505C>T
  hgvsp: ENSP00000437765.2:p.Thr502Ile
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000379839
  ensembl transcript: ENST00000396594
  gene symbol: GNE
  hgvsc: ENST00000396594.3:c.1613C>T
  hgvsp: ENSP00000379839.3:p.Thr538Ile
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159921
  ensembl protein: ENSP00000445117
  ensembl transcript: ENST00000539208
  gene symbol: GNE
  hgvsc: ENST00000539208.1:c.1190C>T
  hgvsp: ENSP00000445117.1:p.Thr397Ile
  variant of: http://identifiers.org/hgnc/23657
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122705
  ensembl protein: ENSP00000419158
  ensembl transcript: ENST00000464497
  gene symbol: CLTA
  hgvsc: ENST00000464497.1:c.485+18711G>A
  variant of: http://identifiers.org/hgnc/2090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr538Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8703
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1973
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25415
bin: 6.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 1.917e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.409528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

QD
type: SiteQuality
SIO_000300: 1.405e1

VQSLOD
type: SiteQuality
SIO_000300: -6.526999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 4158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12510
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.777e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 2.406204e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.154e0

QD
type: SiteQuality
SIO_000300: 1.495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 1965
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12506
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.771e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

DP
type: SiteQuality
SIO_000300: 2.403452e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.109e1

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4122
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.525e1

QD
type: SiteQuality
SIO_000300: 1.234e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 4.914e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 2.39205e6

MQRankSum
type: SiteQuality
SIO_000300: -1.846e0

GenotypeQuality
all individuals: 24492
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8376
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.592e0

FS
type: SiteQuality
SIO_000300: 1.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.994e0

DP
type: SiteQuality
SIO_000300: 2.383979e6

VQSLOD
type: SiteQuality
SIO_000300: -5.872000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.238e1

GenotypeQuality
all individuals: 7204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12474
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 982
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.487358326068004e-4
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 2.282259e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.796e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
all individuals: 1923
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7170
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12470
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 2.274458e6

GenotypeQuality
all individuals: 3441
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
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GenotypeQuality
all individuals: 1431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12463
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518787400139728e-5
allele num: 65842
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -9.408e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.77e1

DP
type: SiteQuality
SIO_000300: 2.188925e6

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 17151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 16502
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

DP
type: SiteQuality
SIO_000300: 2.158937e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

VQSLOD
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 3.149275666596683e-4
allele num: 66682
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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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ReadPosRankSum
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MQRankSum
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FS
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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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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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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African
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: 1.95e0

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

South Asian
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East Asian
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Other
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African
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European (Non-Finnish)
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allele frequency: 1.499385252046661e-5
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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MQ
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SIO_000300: 5.909e1

BaseQRankSum
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SIO_000300: 4.99e0

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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European (Non-Finnish)
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allele num: 66698
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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East Asian
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Other
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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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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East Asian
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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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African
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allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele num: 908
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Latino
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allele num: 11574
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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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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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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Other
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Latino
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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DP
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QD
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FS
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BaseQRankSum
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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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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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South Asian
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ReadPosRankSum
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DP
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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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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East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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African
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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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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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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allele num: 8654
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African
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Other
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ClippingRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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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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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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Latino
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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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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East Asian
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European (Non-Finnish)
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allele num: 66736
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Other
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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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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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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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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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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European (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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East Asian
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
type: SiteQuality
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FS
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SIO_000300: 9.05e-1

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

African
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South Asian
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Latino
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East Asian
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European (Finnish)
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Other
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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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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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 66740
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South Asian
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East Asian
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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DP
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QD
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ReadPosRankSum
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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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East Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Other
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BaseQRankSum
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FS
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VQSLOD
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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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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South Asian
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East Asian
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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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European (Non-Finnish)
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allele num: 66740
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VQSLOD
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DP
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QD
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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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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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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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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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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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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African
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Other
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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QD
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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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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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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QD
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MQRankSum
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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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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Latino
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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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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African
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East Asian
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European (Non-Finnish)
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Latino
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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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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South Asian
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num of homozygotes: 0

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

QD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.996973057212216e-5
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num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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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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European (Non-Finnish)
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allele num: 66734
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South Asian
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Other
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Latino
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East Asian
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European (Finnish)
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African
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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allele frequency: 7.267441860465116e-4
allele num: 16512
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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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European (Finnish)
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Other
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InbreedingCoeff
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DP
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

Other
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FS
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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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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European (Finnish)
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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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Other
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Latino
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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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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East Asian
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Latino
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South Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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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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South Asian
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Latino
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Other
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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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: 2.424536307431204e-4
allele num: 16498
num of homozygotes: 0

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

QD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 2.174406e6

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-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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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
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SIO_000300: 2.172126e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 5.844e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
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SIO_000300: 6.11e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10366
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.1964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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SIO_000300: 8.720000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.151461e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.138108e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

FS
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SIO_000300: 1.395e0

VQSLOD
type: SiteQuality
SIO_000300: -2.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 3.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-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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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 2.089599e6

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-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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variant carriers: 0

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.59e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0096e1

VQSLOD
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BaseQRankSum
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SIO_000300: 4.34e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66736
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East Asian
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South Asian
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InbreedingCoeff
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QD
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DP
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VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele count: 1
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allele num: 66734
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Latino
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European (Finnish)
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Other
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East Asian
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African
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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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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European (Finnish)
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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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FS
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QD
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BaseQRankSum
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MQ
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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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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South Asian
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African
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Other
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European (Non-Finnish)
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Latino
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East Asian
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MQ
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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DP
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MQRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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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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African
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East Asian
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European (Non-Finnish)
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Latino
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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MQRankSum
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QD
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MQ
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DP
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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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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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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European (Finnish)
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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BaseQRankSum
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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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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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DP
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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InbreedingCoeff
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QD
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FS
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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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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East Asian
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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Other
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South Asian
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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African
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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Other
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Latino
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DP
type: SiteQuality
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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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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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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African
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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