14-104129003-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129003
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129003
    reference: chr 14
allele count: 2
allele frequency: 1.912850529859597e-5
allele num: 104556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-36T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-36T>G
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-104129008-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129008
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129008
    reference: chr 14
allele count: 1
allele frequency: 9.554931300043953e-6
allele num: 104658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-31A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-31A>T
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

14-104129011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129011
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129011
    reference: chr 14
allele count: 2
allele frequency: 1.909563091964558e-5
allele num: 104736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-28C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-28C>G
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

14-104129013-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129013
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129013
    reference: chr 14
allele count: 2
allele frequency: 1.905596737618385e-5
allele num: 104954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-26A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-26A>G
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-104129014-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129014
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129014
    reference: chr 14
allele count: 2
allele frequency: 1.905233676910473e-5
allele num: 104974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-25T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-25T>C
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

14-104129015-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129015
    reference: chr 14
allele count: 1
allele frequency: 9.52072662185578e-6
allele num: 105034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-24C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-24C>G
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-104129026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129026
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129026
    reference: chr 14
allele count: 3
allele frequency: 2.833449819603695e-5
allele num: 105878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-13T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-13T>C
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-104129031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129031
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129031
    reference: chr 14
allele count: 42
allele frequency: 3.9550257076671e-4
allele num: 106194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-8C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-8C>T
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.572-8C>T
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

14-104129033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129033
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129033
    reference: chr 14
allele count: 1
allele frequency: 9.371895559595883e-6
allele num: 106702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-6G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-6G>A
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.572-6G>A
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-104129034-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129034
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129034
    reference: chr 14
allele count: 1
allele frequency: 9.360316004268304e-6
allele num: 106834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-5T>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-5T>G
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.572-5T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-104129035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129035
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129035
    reference: chr 14
allele count: 3
allele frequency: 2.804996634004039e-5
allele num: 106952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-4G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-4G>A
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.572-4G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

14-104129036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129036
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129036
    reference: chr 14
allele count: 5
allele frequency: 4.67280985402142e-5
allele num: 107002
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1088-3C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.572-3C>T
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.572-3C>T
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-104129040-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129040
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129040
    reference: chr 14
allele count: 1
allele frequency: 9.288673391666203e-6
allele num: 107658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.573C>G
  hgvsp: ENSP00000334618.7:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.573C>G
  hgvsp: ENSP00000246489.7:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.573C>G
  hgvsp: ENSP00000374394.3:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.573C>G
  hgvsp: ENSP00000341154.6:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.573C>G
  hgvsp: ENSP00000450616.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.573C>G
  hgvsp: ENSP00000450617.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.573C>G
  hgvsp: ENSP00000369377.3:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1089C>G
  hgvsp: ENSP00000439065.1:p.Ile363Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.573C>G
  hgvsp: ENSP00000452487.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.573C>G
  hgvsp: ENSP00000450648.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.573C>G
  hgvsp: ENSP00000452481.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.573C>G
  hgvsp: ENSP00000451242.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.573C>G
  hgvsp: ENSP00000414982.2:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.573C>G
  hgvsp: ENSP00000334523.6:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.573C>G
  hgvsp: ENSP00000412693.4:p.Ile191Met
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile191Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

14-104129044-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129044
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129044
    reference: chr 14
allele count: 1
allele frequency: 9.242144177449168e-6
allele num: 108200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.577C>G
  hgvsp: ENSP00000450617.1:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.577C>G
  hgvsp: ENSP00000369377.3:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.577C>G
  hgvsp: ENSP00000374394.3:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.577C>G
  hgvsp: ENSP00000334618.7:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.577C>G
  hgvsp: ENSP00000450616.1:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.577C>G
  hgvsp: ENSP00000334523.6:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1093C>G
  hgvsp: ENSP00000439065.1:p.Gln365Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.577C>G
  hgvsp: ENSP00000452487.1:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.577C>G
  hgvsp: ENSP00000341154.6:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.577C>G
  hgvsp: ENSP00000450648.1:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.577C>G
  hgvsp: ENSP00000452481.1:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.577C>G
  hgvsp: ENSP00000414982.2:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.577C>G
  hgvsp: ENSP00000246489.7:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.577C>G
  hgvsp: ENSP00000412693.4:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.577C>G
  hgvsp: ENSP00000451242.1:p.Gln193Glu
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln193Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/14-104129045-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129045
    reference: chr 14
allele count: 3
allele frequency: 2.764773104287241e-5
allele num: 108508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.578A>C
  hgvsp: ENSP00000374394.3:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.578A>C
  hgvsp: ENSP00000450648.1:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.578A>C
  hgvsp: ENSP00000334523.6:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.578A>C
  hgvsp: ENSP00000452487.1:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1094A>C
  hgvsp: ENSP00000439065.1:p.Gln365Pro
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.578A>C
  hgvsp: ENSP00000341154.6:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.578A>C
  hgvsp: ENSP00000414982.2:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.578A>C
  hgvsp: ENSP00000334618.7:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.578A>C
  hgvsp: ENSP00000450617.1:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.578A>C
  hgvsp: ENSP00000412693.4:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.578A>C
  hgvsp: ENSP00000451242.1:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.578A>C
  hgvsp: ENSP00000369377.3:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.578A>C
  hgvsp: ENSP00000246489.7:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.578A>C
  hgvsp: ENSP00000450616.1:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.578A>C
  hgvsp: ENSP00000452481.1:p.Gln193Pro
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln193Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

14-104129045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129045
    reference: chr 14
allele count: 1
allele frequency: 9.215910347624138e-6
allele num: 108508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.578A>G
  hgvsp: ENSP00000369377.3:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.578A>G
  hgvsp: ENSP00000414982.2:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.578A>G
  hgvsp: ENSP00000450616.1:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.578A>G
  hgvsp: ENSP00000450648.1:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.578A>G
  hgvsp: ENSP00000374394.3:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1094A>G
  hgvsp: ENSP00000439065.1:p.Gln365Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.578A>G
  hgvsp: ENSP00000452487.1:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.578A>G
  hgvsp: ENSP00000451242.1:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.578A>G
  hgvsp: ENSP00000334523.6:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.578A>G
  hgvsp: ENSP00000450617.1:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.578A>G
  hgvsp: ENSP00000246489.7:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.578A>G
  hgvsp: ENSP00000452481.1:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.578A>G
  hgvsp: ENSP00000341154.6:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.578A>G
  hgvsp: ENSP00000334618.7:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.578A>G
  hgvsp: ENSP00000412693.4:p.Gln193Arg
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln193Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-104129048-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129048
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129048
    reference: chr 14
allele count: 2
allele frequency: 1.836075205640423e-5
allele num: 108928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.581A>C
  hgvsp: ENSP00000450648.1:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.581A>C
  hgvsp: ENSP00000451242.1:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.581A>C
  hgvsp: ENSP00000246489.7:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.581A>C
  hgvsp: ENSP00000452487.1:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.581A>C
  hgvsp: ENSP00000452481.1:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.581A>C
  hgvsp: ENSP00000412693.4:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.581A>C
  hgvsp: ENSP00000414982.2:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.581A>C
  hgvsp: ENSP00000374394.3:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.581A>C
  hgvsp: ENSP00000341154.6:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.581A>C
  hgvsp: ENSP00000450617.1:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.581A>C
  hgvsp: ENSP00000334523.6:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.581A>C
  hgvsp: ENSP00000369377.3:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.581A>C
  hgvsp: ENSP00000450616.1:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1097A>C
  hgvsp: ENSP00000439065.1:p.Gln366Pro
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.581A>C
  hgvsp: ENSP00000334618.7:p.Gln194Pro
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln194Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-104129055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129055
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129055
    reference: chr 14
allele count: 1
allele frequency: 9.108297659167501e-6
allele num: 109790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.588C>T
  hgvsp: ENST00000246489.7:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.588C>T
  hgvsp: ENST00000348520.6:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.588C>T
  hgvsp: ENST00000555836.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.588C>T
  hgvsp: ENST00000389744.4:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.588C>T
  hgvsp: ENST00000554228.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.588C>T
  hgvsp: ENST00000452929.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.588C>T
  hgvsp: ENST00000380038.3:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.588C>T
  hgvsp: ENST00000554280.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.588C>T
  hgvsp: ENST00000347839.6:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1104C>T
  hgvsp: ENST00000472726.2:c.1104C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.588C>T
  hgvsp: ENST00000557575.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.588C>T
  hgvsp: ENST00000553286.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.588C>T
  hgvsp: ENST00000445352.4:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.588C>T
  hgvsp: ENST00000557450.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.588C>T
  hgvsp: ENST00000334553.6:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser196Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

14-104129058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129058
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129058
    reference: chr 14
allele count: 144
allele frequency: 1.306193534342005e-3
allele num: 110244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.591T>C
  hgvsp: ENST00000452929.2:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.591T>C
  hgvsp: ENST00000348520.6:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.591T>C
  hgvsp: ENST00000557575.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.591T>C
  hgvsp: ENST00000554280.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.591T>C
  hgvsp: ENST00000380038.3:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.591T>C
  hgvsp: ENST00000334553.6:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.591T>C
  hgvsp: ENST00000389744.4:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.591T>C
  hgvsp: ENST00000555836.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.591T>C
  hgvsp: ENST00000553286.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.591T>C
  hgvsp: ENST00000557450.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.591T>C
  hgvsp: ENST00000445352.4:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.591T>C
  hgvsp: ENST00000246489.7:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.591T>C
  hgvsp: ENST00000554228.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1107T>C
  hgvsp: ENST00000472726.2:c.1107T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.591T>C
  hgvsp: ENST00000347839.6:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28705
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8392
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser197Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-104129064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129064
    reference: chr 14
allele count: 2
allele frequency: 1.799273093670157e-5
allele num: 111156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.597C>T
  hgvsp: ENST00000554228.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.597C>T
  hgvsp: ENST00000553286.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.597C>T
  hgvsp: ENST00000452929.2:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.597C>T
  hgvsp: ENST00000557450.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.597C>T
  hgvsp: ENST00000445352.4:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.597C>T
  hgvsp: ENST00000554280.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1113C>T
  hgvsp: ENST00000472726.2:c.1113C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.597C>T
  hgvsp: ENST00000555836.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.597C>T
  hgvsp: ENST00000389744.4:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.597C>T
  hgvsp: ENST00000380038.3:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.597C>T
  hgvsp: ENST00000348520.6:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.597C>T
  hgvsp: ENST00000334553.6:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.597C>T
  hgvsp: ENST00000246489.7:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.597C>T
  hgvsp: ENST00000347839.6:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.597C>T
  hgvsp: ENST00000557575.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala199Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

14-104129066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129066
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129066
    reference: chr 14
allele count: 2
allele frequency: 1.788173023621766e-5
allele num: 111846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.599C>T
  hgvsp: ENSP00000450648.1:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.599C>T
  hgvsp: ENSP00000412693.4:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1115C>T
  hgvsp: ENSP00000439065.1:p.Ala372Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.599C>T
  hgvsp: ENSP00000341154.6:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.599C>T
  hgvsp: ENSP00000334618.7:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.599C>T
  hgvsp: ENSP00000246489.7:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.599C>T
  hgvsp: ENSP00000374394.3:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.599C>T
  hgvsp: ENSP00000369377.3:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.599C>T
  hgvsp: ENSP00000450617.1:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.599C>T
  hgvsp: ENSP00000452481.1:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.599C>T
  hgvsp: ENSP00000414982.2:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.599C>T
  hgvsp: ENSP00000451242.1:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.599C>T
  hgvsp: ENSP00000450616.1:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.599C>T
  hgvsp: ENSP00000452487.1:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.599C>T
  hgvsp: ENSP00000334523.6:p.Ala200Val
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala200Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-104129067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129067
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129067
    reference: chr 14
allele count: 5
allele frequency: 4.449586188484471e-5
allele num: 112370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.600G>A
  hgvsp: ENST00000452929.2:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.600G>A
  hgvsp: ENST00000555836.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.600G>A
  hgvsp: ENST00000347839.6:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.600G>A
  hgvsp: ENST00000554280.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.600G>A
  hgvsp: ENST00000557575.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.600G>A
  hgvsp: ENST00000557450.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.600G>A
  hgvsp: ENST00000380038.3:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.600G>A
  hgvsp: ENST00000553286.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.600G>A
  hgvsp: ENST00000554228.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.600G>A
  hgvsp: ENST00000445352.4:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.600G>A
  hgvsp: ENST00000389744.4:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.600G>A
  hgvsp: ENST00000334553.6:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1116G>A
  hgvsp: ENST00000472726.2:c.1116G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.600G>A
  hgvsp: ENST00000246489.7:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.600G>A
  hgvsp: ENST00000348520.6:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala200Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-104129069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129069
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129069
    reference: chr 14
allele count: 1
allele frequency: 8.877210425395924e-6
allele num: 112648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1118C>A
  hgvsp: ENSP00000439065.1:p.Ala373Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.602C>A
  hgvsp: ENSP00000452481.1:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.602C>A
  hgvsp: ENSP00000452487.1:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.602C>A
  hgvsp: ENSP00000412693.4:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.602C>A
  hgvsp: ENSP00000450648.1:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.602C>A
  hgvsp: ENSP00000341154.6:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.602C>A
  hgvsp: ENSP00000374394.3:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.602C>A
  hgvsp: ENSP00000369377.3:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.602C>A
  hgvsp: ENSP00000414982.2:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.602C>A
  hgvsp: ENSP00000451242.1:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.602C>A
  hgvsp: ENSP00000450617.1:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.602C>A
  hgvsp: ENSP00000334523.6:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.602C>A
  hgvsp: ENSP00000246489.7:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.602C>A
  hgvsp: ENSP00000450616.1:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.602C>A
  hgvsp: ENSP00000334618.7:p.Ala201Asp
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala201Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-104129082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129082
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129082
    reference: chr 14
allele count: 10
allele frequency: 8.761631065239105e-5
allele num: 114134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.615C>T
  hgvsp: ENST00000557450.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.615C>T
  hgvsp: ENST00000334553.6:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.615C>T
  hgvsp: ENST00000557575.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.615C>T
  hgvsp: ENST00000452929.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.615C>T
  hgvsp: ENST00000555836.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.615C>T
  hgvsp: ENST00000389744.4:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.615C>T
  hgvsp: ENST00000553286.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1131C>T
  hgvsp: ENST00000472726.2:c.1131C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.615C>T
  hgvsp: ENST00000246489.7:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.615C>T
  hgvsp: ENST00000347839.6:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.615C>T
  hgvsp: ENST00000380038.3:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.615C>T
  hgvsp: ENST00000348520.6:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.615C>T
  hgvsp: ENST00000554280.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.615C>T
  hgvsp: ENST00000554228.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.615C>T
  hgvsp: ENST00000445352.4:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly377Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-104129083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129083
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129083
    reference: chr 14
allele count: 1
allele frequency: 8.728593125360055e-6
allele num: 114566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.616G>A
  hgvsp: ENSP00000452481.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.616G>A
  hgvsp: ENSP00000412693.4:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.616G>A
  hgvsp: ENSP00000452487.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.616G>A
  hgvsp: ENSP00000450616.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.616G>A
  hgvsp: ENSP00000451242.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.616G>A
  hgvsp: ENSP00000450617.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.616G>A
  hgvsp: ENSP00000369377.3:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.616G>A
  hgvsp: ENSP00000341154.6:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.616G>A
  hgvsp: ENSP00000246489.7:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.616G>A
  hgvsp: ENSP00000334523.6:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.616G>A
  hgvsp: ENSP00000414982.2:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1132G>A
  hgvsp: ENSP00000439065.1:p.Gly378Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.616G>A
  hgvsp: ENSP00000450648.1:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.616G>A
  hgvsp: ENSP00000334618.7:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.616G>A
  hgvsp: ENSP00000374394.3:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly378Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-104129084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129084
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129084
    reference: chr 14
allele count: 1
allele frequency: 8.719764217575556e-6
allele num: 114682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.617G>A
  hgvsp: ENSP00000452487.1:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.617G>A
  hgvsp: ENSP00000341154.6:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.617G>A
  hgvsp: ENSP00000450617.1:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.617G>A
  hgvsp: ENSP00000451242.1:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1133G>A
  hgvsp: ENSP00000439065.1:p.Gly378Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.617G>A
  hgvsp: ENSP00000452481.1:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.617G>A
  hgvsp: ENSP00000334618.7:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.617G>A
  hgvsp: ENSP00000334523.6:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.617G>A
  hgvsp: ENSP00000450616.1:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.617G>A
  hgvsp: ENSP00000369377.3:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.617G>A
  hgvsp: ENSP00000246489.7:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.617G>A
  hgvsp: ENSP00000414982.2:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.617G>A
  hgvsp: ENSP00000450648.1:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.617G>A
  hgvsp: ENSP00000412693.4:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.617G>A
  hgvsp: ENSP00000374394.3:p.Gly206Asp
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly378Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-104129085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129085
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129085
    reference: chr 14
allele count: 1
allele frequency: 8.714900737280603e-6
allele num: 114746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.618C>G
  hgvsp: ENST00000389744.4:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.618C>G
  hgvsp: ENST00000380038.3:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.618C>G
  hgvsp: ENST00000557575.1:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.618C>G
  hgvsp: ENST00000348520.6:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.618C>G
  hgvsp: ENST00000246489.7:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.618C>G
  hgvsp: ENST00000452929.2:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.618C>G
  hgvsp: ENST00000554280.1:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.618C>G
  hgvsp: ENST00000557450.1:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.618C>G
  hgvsp: ENST00000334553.6:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.618C>G
  hgvsp: ENST00000555836.1:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.618C>G
  hgvsp: ENST00000347839.6:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1134C>G
  hgvsp: ENST00000472726.2:c.1134C>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.618C>G
  hgvsp: ENST00000445352.4:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.618C>G
  hgvsp: ENST00000553286.1:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.618C>G
  hgvsp: ENST00000554228.1:c.618C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly378Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

14-104129088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129088
    reference: chr 14
allele count: 9
allele frequency: 7.823637817726625e-5
allele num: 115036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.621C>T
  hgvsp: ENST00000380038.3:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.621C>T
  hgvsp: ENST00000348520.6:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.621C>T
  hgvsp: ENST00000246489.7:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.621C>T
  hgvsp: ENST00000555836.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.621C>T
  hgvsp: ENST00000557450.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.621C>T
  hgvsp: ENST00000452929.2:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.621C>T
  hgvsp: ENST00000389744.4:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.621C>T
  hgvsp: ENST00000554280.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.621C>T
  hgvsp: ENST00000347839.6:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.621C>T
  hgvsp: ENST00000557575.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.621C>T
  hgvsp: ENST00000334553.6:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.621C>T
  hgvsp: ENST00000554228.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.621C>T
  hgvsp: ENST00000553286.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1137C>T
  hgvsp: ENST00000472726.2:c.1137C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.621C>T
  hgvsp: ENST00000445352.4:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16937
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr379Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

14-104129097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129097
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129097
    reference: chr 14
allele count: 538
allele frequency: 4.638970803800852e-3
allele num: 115974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.630C>T
  hgvsp: ENST00000389744.4:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.630C>T
  hgvsp: ENST00000555836.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.630C>T
  hgvsp: ENST00000554280.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.630C>T
  hgvsp: ENST00000557450.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.630C>T
  hgvsp: ENST00000445352.4:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.630C>T
  hgvsp: ENST00000380038.3:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1146C>T
  hgvsp: ENST00000472726.2:c.1146C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.630C>T
  hgvsp: ENST00000557575.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.630C>T
  hgvsp: ENST00000348520.6:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.630C>T
  hgvsp: ENST00000452929.2:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.630C>T
  hgvsp: ENST00000246489.7:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.630C>T
  hgvsp: ENST00000554228.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.630C>T
  hgvsp: ENST00000553286.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.630C>T
  hgvsp: ENST00000347839.6:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.630C>T
  hgvsp: ENST00000334553.6:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17172
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
hgvs: p.Pro382Pro
num of homozygotes: 11
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

14-104129099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129099
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129099
    reference: chr 14
allele count: 1
allele frequency: 8.6071852782703e-6
allele num: 116182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.632C>T
  hgvsp: ENSP00000334523.6:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.632C>T
  hgvsp: ENSP00000450616.1:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.632C>T
  hgvsp: ENSP00000450648.1:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.632C>T
  hgvsp: ENSP00000450617.1:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.632C>T
  hgvsp: ENSP00000452487.1:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.632C>T
  hgvsp: ENSP00000341154.6:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.632C>T
  hgvsp: ENSP00000414982.2:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.632C>T
  hgvsp: ENSP00000412693.4:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.632C>T
  hgvsp: ENSP00000374394.3:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1148C>T
  hgvsp: ENSP00000439065.1:p.Ala383Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.632C>T
  hgvsp: ENSP00000369377.3:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.632C>T
  hgvsp: ENSP00000451242.1:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.632C>T
  hgvsp: ENSP00000246489.7:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.632C>T
  hgvsp: ENSP00000334618.7:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.632C>T
  hgvsp: ENSP00000452481.1:p.Ala211Val
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala383Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

14-104129107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129107
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129107
    reference: chr 14
allele count: 1
allele frequency: 8.543941491088669e-6
allele num: 117042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.640C>T
  hgvsp: ENSP00000450648.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.640C>T
  hgvsp: ENSP00000334523.6:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.640C>T
  hgvsp: ENSP00000369377.3:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.640C>T
  hgvsp: ENSP00000452487.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.640C>T
  hgvsp: ENSP00000450616.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.640C>T
  hgvsp: ENSP00000341154.6:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1156C>T
  hgvsp: ENSP00000439065.1:p.Arg386Trp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.640C>T
  hgvsp: ENSP00000452481.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.640C>T
  hgvsp: ENSP00000334618.7:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.640C>T
  hgvsp: ENSP00000450617.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.640C>T
  hgvsp: ENSP00000451242.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.640C>T
  hgvsp: ENSP00000414982.2:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.640C>T
  hgvsp: ENSP00000246489.7:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.640C>T
  hgvsp: ENSP00000374394.3:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.640C>T
  hgvsp: ENSP00000412693.4:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg386Trp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

14-104129109-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129109
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129109
    reference: chr 14
allele count: 1
allele frequency: 8.51368148614824e-6
allele num: 117458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.642G>T
  hgvsp: ENST00000445352.4:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.642G>T
  hgvsp: ENST00000553286.1:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.642G>T
  hgvsp: ENST00000334553.6:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1158G>T
  hgvsp: ENST00000472726.2:c.1158G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.642G>T
  hgvsp: ENST00000389744.4:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.642G>T
  hgvsp: ENST00000246489.7:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.642G>T
  hgvsp: ENST00000554280.1:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.642G>T
  hgvsp: ENST00000348520.6:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.642G>T
  hgvsp: ENST00000380038.3:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.642G>T
  hgvsp: ENST00000452929.2:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.642G>T
  hgvsp: ENST00000555836.1:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.642G>T
  hgvsp: ENST00000557450.1:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.642G>T
  hgvsp: ENST00000347839.6:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.642G>T
  hgvsp: ENST00000557575.1:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.642G>T
  hgvsp: ENST00000554228.1:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg386Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

14-104129112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129112
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129112
    reference: chr 14
allele count: 1
allele frequency: 8.495021917156547e-6
allele num: 117716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.645G>A
  hgvsp: ENST00000334553.6:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.645G>A
  hgvsp: ENST00000389744.4:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.645G>A
  hgvsp: ENST00000452929.2:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.645G>A
  hgvsp: ENST00000555836.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.645G>A
  hgvsp: ENST00000554228.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.645G>A
  hgvsp: ENST00000557450.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.645G>A
  hgvsp: ENST00000380038.3:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.645G>A
  hgvsp: ENST00000557575.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.645G>A
  hgvsp: ENST00000554280.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1161G>A
  hgvsp: ENST00000472726.2:c.1161G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.645G>A
  hgvsp: ENST00000347839.6:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.645G>A
  hgvsp: ENST00000246489.7:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.645G>A
  hgvsp: ENST00000348520.6:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.645G>A
  hgvsp: ENST00000445352.4:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.645G>A
  hgvsp: ENST00000553286.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr387Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

14-104129130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129130
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129130
    reference: chr 14
allele count: 3
allele frequency: 2.532756990409294e-5
allele num: 118448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.663C>T
  hgvsp: ENST00000557575.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.663C>T
  hgvsp: ENST00000554280.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.663C>T
  hgvsp: ENST00000347839.6:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.663C>T
  hgvsp: ENST00000348520.6:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.663C>T
  hgvsp: ENST00000557450.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.663C>T
  hgvsp: ENST00000554228.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.663C>T
  hgvsp: ENST00000553286.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.663C>T
  hgvsp: ENST00000334553.6:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.663C>T
  hgvsp: ENST00000452929.2:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.663C>T
  hgvsp: ENST00000555836.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.663C>T
  hgvsp: ENST00000380038.3:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.663C>T
  hgvsp: ENST00000445352.4:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.663C>T
  hgvsp: ENST00000389744.4:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.663C>T
  hgvsp: ENST00000246489.7:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1179C>T
  hgvsp: ENST00000472726.2:c.1179C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile393Ile
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-104129136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129136
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129136
    reference: chr 14
allele count: 6
allele frequency: 5.061326404939855e-5
allele num: 118546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.669C>T
  hgvsp: ENST00000389744.4:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.669C>T
  hgvsp: ENST00000347839.6:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.669C>T
  hgvsp: ENST00000553286.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.669C>T
  hgvsp: ENST00000554280.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.669C>T
  hgvsp: ENST00000445352.4:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.669C>T
  hgvsp: ENST00000452929.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.669C>T
  hgvsp: ENST00000557575.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.669C>T
  hgvsp: ENST00000555836.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1185C>T
  hgvsp: ENST00000472726.2:c.1185C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.669C>T
  hgvsp: ENST00000380038.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.669C>T
  hgvsp: ENST00000348520.6:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.669C>T
  hgvsp: ENST00000334553.6:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.669C>T
  hgvsp: ENST00000554228.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.669C>T
  hgvsp: ENST00000557450.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.669C>T
  hgvsp: ENST00000246489.7:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr395Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-104129139-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129139
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129139
    reference: chr 14
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.672C>G
  hgvsp: ENST00000553286.1:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.672C>G
  hgvsp: ENST00000246489.7:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.672C>G
  hgvsp: ENST00000334553.6:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.672C>G
  hgvsp: ENST00000452929.2:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.672C>G
  hgvsp: ENST00000389744.4:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.672C>G
  hgvsp: ENST00000554280.1:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.672C>G
  hgvsp: ENST00000554228.1:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.672C>G
  hgvsp: ENST00000557575.1:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.672C>G
  hgvsp: ENST00000445352.4:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.672C>G
  hgvsp: ENST00000347839.6:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.672C>G
  hgvsp: ENST00000348520.6:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.672C>G
  hgvsp: ENST00000555836.1:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.672C>G
  hgvsp: ENST00000380038.3:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1188C>G
  hgvsp: ENST00000472726.2:c.1188C>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.672C>G
  hgvsp: ENST00000557450.1:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala396Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

14-104129139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129139
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129139
    reference: chr 14
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.672C>T
  hgvsp: ENST00000554280.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.672C>T
  hgvsp: ENST00000557575.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.672C>T
  hgvsp: ENST00000334553.6:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.672C>T
  hgvsp: ENST00000554228.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.672C>T
  hgvsp: ENST00000348520.6:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.672C>T
  hgvsp: ENST00000389744.4:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.672C>T
  hgvsp: ENST00000445352.4:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.672C>T
  hgvsp: ENST00000347839.6:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.672C>T
  hgvsp: ENST00000557450.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1188C>T
  hgvsp: ENST00000472726.2:c.1188C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.672C>T
  hgvsp: ENST00000380038.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.672C>T
  hgvsp: ENST00000553286.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.672C>T
  hgvsp: ENST00000555836.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.672C>T
  hgvsp: ENST00000452929.2:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.672C>T
  hgvsp: ENST00000246489.7:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala396Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-104129141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129141
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129141
    reference: chr 14
allele count: 1
allele frequency: 8.429144610404936e-6
allele num: 118636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.674C>T
  hgvsp: ENSP00000414982.2:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.674C>T
  hgvsp: ENSP00000452481.1:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.674C>T
  hgvsp: ENSP00000369377.3:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.674C>T
  hgvsp: ENSP00000452487.1:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.674C>T
  hgvsp: ENSP00000412693.4:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.674C>T
  hgvsp: ENSP00000450617.1:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.674C>T
  hgvsp: ENSP00000451242.1:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.674C>T
  hgvsp: ENSP00000246489.7:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.674C>T
  hgvsp: ENSP00000341154.6:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.674C>T
  hgvsp: ENSP00000334618.7:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.674C>T
  hgvsp: ENSP00000450648.1:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1190C>T
  hgvsp: ENSP00000439065.1:p.Ser397Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.674C>T
  hgvsp: ENSP00000334523.6:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.674C>T
  hgvsp: ENSP00000450616.1:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.674C>T
  hgvsp: ENSP00000374394.3:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser397Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-104129142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129142
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129142
    reference: chr 14
allele count: 1
allele frequency: 8.42516766083645e-6
allele num: 118692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.675G>A
  hgvsp: ENST00000380038.3:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.675G>A
  hgvsp: ENST00000246489.7:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.675G>A
  hgvsp: ENST00000445352.4:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.675G>A
  hgvsp: ENST00000557575.1:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.675G>A
  hgvsp: ENST00000452929.2:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.675G>A
  hgvsp: ENST00000348520.6:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.675G>A
  hgvsp: ENST00000334553.6:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.675G>A
  hgvsp: ENST00000553286.1:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1191G>A
  hgvsp: ENST00000472726.2:c.1191G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.675G>A
  hgvsp: ENST00000555836.1:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.675G>A
  hgvsp: ENST00000557450.1:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.675G>A
  hgvsp: ENST00000554228.1:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.675G>A
  hgvsp: ENST00000554280.1:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.675G>A
  hgvsp: ENST00000347839.6:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.675G>A
  hgvsp: ENST00000389744.4:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser397Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

14-104129142-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129142
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129142
    reference: chr 14
allele count: 1
allele frequency: 8.42516766083645e-6
allele num: 118692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.675G>T
  hgvsp: ENST00000246489.7:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.675G>T
  hgvsp: ENST00000555836.1:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1191G>T
  hgvsp: ENST00000472726.2:c.1191G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.675G>T
  hgvsp: ENST00000557575.1:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.675G>T
  hgvsp: ENST00000347839.6:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.675G>T
  hgvsp: ENST00000452929.2:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.675G>T
  hgvsp: ENST00000445352.4:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.675G>T
  hgvsp: ENST00000557450.1:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.675G>T
  hgvsp: ENST00000554280.1:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.675G>T
  hgvsp: ENST00000348520.6:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.675G>T
  hgvsp: ENST00000553286.1:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.675G>T
  hgvsp: ENST00000389744.4:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.675G>T
  hgvsp: ENST00000334553.6:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.675G>T
  hgvsp: ENST00000380038.3:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.675G>T
  hgvsp: ENST00000554228.1:c.675G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser397Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-104129145-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129145
    reference: chr 14
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1194G>T
  hgvsp: ENSP00000439065.1:p.Gln398His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.678G>T
  hgvsp: ENSP00000369377.3:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.678G>T
  hgvsp: ENSP00000246489.7:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.678G>T
  hgvsp: ENSP00000412693.4:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.678G>T
  hgvsp: ENSP00000452481.1:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.678G>T
  hgvsp: ENSP00000341154.6:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.678G>T
  hgvsp: ENSP00000450617.1:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.678G>T
  hgvsp: ENSP00000334618.7:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.678G>T
  hgvsp: ENSP00000414982.2:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.678G>T
  hgvsp: ENSP00000451242.1:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.678G>T
  hgvsp: ENSP00000450648.1:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.678G>T
  hgvsp: ENSP00000374394.3:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.678G>T
  hgvsp: ENSP00000334523.6:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.678G>T
  hgvsp: ENSP00000452487.1:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.678G>T
  hgvsp: ENSP00000450616.1:p.Gln226His
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln398His
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-104129149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129149
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129149
    reference: chr 14
allele count: 1
allele frequency: 8.413967185527977e-6
allele num: 118850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.682C>T
  hgvsp: ENSP00000334523.6:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.682C>T
  hgvsp: ENSP00000451242.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.682C>T
  hgvsp: ENSP00000374394.3:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.682C>T
  hgvsp: ENSP00000412693.4:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.682C>T
  hgvsp: ENSP00000452487.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.682C>T
  hgvsp: ENSP00000450648.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.682C>T
  hgvsp: ENSP00000452481.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.682C>T
  hgvsp: ENSP00000414982.2:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.682C>T
  hgvsp: ENSP00000369377.3:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.682C>T
  hgvsp: ENSP00000334618.7:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.682C>T
  hgvsp: ENSP00000341154.6:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1198C>T
  hgvsp: ENSP00000439065.1:p.Arg400Cys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.682C>T
  hgvsp: ENSP00000450616.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.682C>T
  hgvsp: ENSP00000450617.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.682C>T
  hgvsp: ENSP00000246489.7:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg400Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

14-104129150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129150
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129150
    reference: chr 14
allele count: 1
allele frequency: 8.409721638213775e-6
allele num: 118910
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.683G>A
  hgvsp: ENSP00000414982.2:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1199G>A
  hgvsp: ENSP00000439065.1:p.Arg400His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.683G>A
  hgvsp: ENSP00000450648.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.683G>A
  hgvsp: ENSP00000450617.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.683G>A
  hgvsp: ENSP00000369377.3:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.683G>A
  hgvsp: ENSP00000412693.4:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.683G>A
  hgvsp: ENSP00000334618.7:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.683G>A
  hgvsp: ENSP00000341154.6:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.683G>A
  hgvsp: ENSP00000452481.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.683G>A
  hgvsp: ENSP00000450616.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.683G>A
  hgvsp: ENSP00000451242.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.683G>A
  hgvsp: ENSP00000452487.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.683G>A
  hgvsp: ENSP00000334523.6:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.683G>A
  hgvsp: ENSP00000374394.3:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.683G>A
  hgvsp: ENSP00000246489.7:p.Arg228His
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg400His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-104129154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129154
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129154
    reference: chr 14
allele count: 18
allele frequency: 1.512986467176599e-4
allele num: 118970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.687C>T
  hgvsp: ENST00000554280.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1203C>T
  hgvsp: ENST00000472726.2:c.1203C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.687C>T
  hgvsp: ENST00000445352.4:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.687C>T
  hgvsp: ENST00000348520.6:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.687C>T
  hgvsp: ENST00000557450.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.687C>T
  hgvsp: ENST00000553286.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.687C>T
  hgvsp: ENST00000389744.4:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.687C>T
  hgvsp: ENST00000452929.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.687C>T
  hgvsp: ENST00000334553.6:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.687C>T
  hgvsp: ENST00000557575.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.687C>T
  hgvsp: ENST00000380038.3:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.687C>T
  hgvsp: ENST00000555836.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.687C>T
  hgvsp: ENST00000347839.6:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.687C>T
  hgvsp: ENST00000554228.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.687C>T
  hgvsp: ENST00000246489.7:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18540
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr401Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

14-104129203-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129203
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129203
    reference: chr 14
allele count: 2
allele frequency: 1.679232926399221e-5
allele num: 119102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.736A>T
  hgvsp: ENSP00000412693.4:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1252A>T
  hgvsp: ENSP00000439065.1:p.Thr418Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.736A>T
  hgvsp: ENSP00000414982.2:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.736A>T
  hgvsp: ENSP00000246489.7:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.736A>T
  hgvsp: ENSP00000450616.1:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.736A>T
  hgvsp: ENSP00000334523.6:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.736A>T
  hgvsp: ENSP00000341154.6:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.736A>T
  hgvsp: ENSP00000452487.1:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.736A>T
  hgvsp: ENSP00000451242.1:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.736A>T
  hgvsp: ENSP00000452481.1:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.736A>T
  hgvsp: ENSP00000369377.3:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.736A>T
  hgvsp: ENSP00000374394.3:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.736A>T
  hgvsp: ENSP00000334618.7:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.736A>T
  hgvsp: ENSP00000450617.1:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.736A>T
  hgvsp: ENSP00000450648.1:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr418Ser
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: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

14-104129210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129210
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129210
    reference: chr 14
allele count: 1
allele frequency: 8.407741848694278e-6
allele num: 118938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.743G>A
  hgvsp: ENSP00000451242.1:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.743G>A
  hgvsp: ENSP00000452487.1:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.743G>A
  hgvsp: ENSP00000374394.3:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1259G>A
  hgvsp: ENSP00000439065.1:p.Gly420Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.743G>A
  hgvsp: ENSP00000412693.4:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.743G>A
  hgvsp: ENSP00000450617.1:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.743G>A
  hgvsp: ENSP00000452481.1:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.743G>A
  hgvsp: ENSP00000334618.7:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.743G>A
  hgvsp: ENSP00000369377.3:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.743G>A
  hgvsp: ENSP00000414982.2:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.743G>A
  hgvsp: ENSP00000450648.1:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.743G>A
  hgvsp: ENSP00000341154.6:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.743G>A
  hgvsp: ENSP00000246489.7:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.743G>A
  hgvsp: ENSP00000334523.6:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.743G>A
  hgvsp: ENSP00000450616.1:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly420Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

14-104129214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129214
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129214
    reference: chr 14
allele count: 3
allele frequency: 2.527550298250935e-5
allele num: 118692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.747C>T
  hgvsp: ENST00000445352.4:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.747C>T
  hgvsp: ENST00000554280.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.747C>T
  hgvsp: ENST00000452929.2:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.747C>T
  hgvsp: ENST00000334553.6:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.747C>T
  hgvsp: ENST00000389744.4:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.747C>T
  hgvsp: ENST00000557450.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.747C>T
  hgvsp: ENST00000347839.6:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.747C>T
  hgvsp: ENST00000380038.3:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.747C>T
  hgvsp: ENST00000557575.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.747C>T
  hgvsp: ENST00000348520.6:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.747C>T
  hgvsp: ENST00000555836.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.747C>T
  hgvsp: ENST00000553286.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.747C>T
  hgvsp: ENST00000246489.7:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.747C>T
  hgvsp: ENST00000554228.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1263C>T
  hgvsp: ENST00000472726.2:c.1263C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His421His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-104129215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129215
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129215
    reference: chr 14
allele count: 2
allele frequency: 1.688732774925696e-5
allele num: 118432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.748G>A
  hgvsp: ENSP00000452487.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.748G>A
  hgvsp: ENSP00000374394.3:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.748G>A
  hgvsp: ENSP00000452481.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.748G>A
  hgvsp: ENSP00000450648.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.748G>A
  hgvsp: ENSP00000412693.4:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.748G>A
  hgvsp: ENSP00000451242.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.748G>A
  hgvsp: ENSP00000450617.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.748G>A
  hgvsp: ENSP00000450616.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.748G>A
  hgvsp: ENSP00000414982.2:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.748G>A
  hgvsp: ENSP00000334618.7:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.748G>A
  hgvsp: ENSP00000246489.7:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1264G>A
  hgvsp: ENSP00000439065.1:p.Asp422Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.748G>A
  hgvsp: ENSP00000369377.3:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.748G>A
  hgvsp: ENSP00000341154.6:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.748G>A
  hgvsp: ENSP00000334523.6:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp422Asn
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: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

14-104129217-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129217
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129217
    reference: chr 14
allele count: 3
allele frequency: 2.532628699748425e-5
allele num: 118454
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1266C>G
  hgvsp: ENSP00000439065.1:p.Asp422Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.750C>G
  hgvsp: ENSP00000451242.1:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.750C>G
  hgvsp: ENSP00000334618.7:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.750C>G
  hgvsp: ENSP00000412693.4:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.750C>G
  hgvsp: ENSP00000450616.1:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.750C>G
  hgvsp: ENSP00000414982.2:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.750C>G
  hgvsp: ENSP00000374394.3:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.750C>G
  hgvsp: ENSP00000341154.6:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.750C>G
  hgvsp: ENSP00000452481.1:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.750C>G
  hgvsp: ENSP00000369377.3:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.750C>G
  hgvsp: ENSP00000450648.1:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.750C>G
  hgvsp: ENSP00000452487.1:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.750C>G
  hgvsp: ENSP00000246489.7:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.750C>G
  hgvsp: ENSP00000450617.1:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.750C>G
  hgvsp: ENSP00000334523.6:p.Asp250Glu
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp422Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-104129222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129222
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129222
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 117940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.755C>T
  hgvsp: ENSP00000452481.1:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.755C>T
  hgvsp: ENSP00000450616.1:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.755C>T
  hgvsp: ENSP00000374394.3:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.755C>T
  hgvsp: ENSP00000451242.1:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.755C>T
  hgvsp: ENSP00000412693.4:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.755C>T
  hgvsp: ENSP00000369377.3:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1271C>T
  hgvsp: ENSP00000439065.1:p.Pro424Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.755C>T
  hgvsp: ENSP00000341154.6:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.755C>T
  hgvsp: ENSP00000334618.7:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.755C>T
  hgvsp: ENSP00000452487.1:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.755C>T
  hgvsp: ENSP00000414982.2:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.755C>T
  hgvsp: ENSP00000450648.1:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.755C>T
  hgvsp: ENSP00000450617.1:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.755C>T
  hgvsp: ENSP00000246489.7:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.755C>T
  hgvsp: ENSP00000334523.6:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29827
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro424Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-104129223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129223
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129223
    reference: chr 14
allele count: 2
allele frequency: 1.695892548248143e-5
allele num: 117932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.756G>A
  hgvsp: ENST00000348520.6:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.756G>A
  hgvsp: ENST00000347839.6:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.756G>A
  hgvsp: ENST00000553286.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.756G>A
  hgvsp: ENST00000246489.7:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.756G>A
  hgvsp: ENST00000554280.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.756G>A
  hgvsp: ENST00000445352.4:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.756G>A
  hgvsp: ENST00000554228.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.756G>A
  hgvsp: ENST00000555836.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1272G>A
  hgvsp: ENST00000472726.2:c.1272G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.756G>A
  hgvsp: ENST00000452929.2:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.756G>A
  hgvsp: ENST00000557575.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.756G>A
  hgvsp: ENST00000389744.4:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.756G>A
  hgvsp: ENST00000380038.3:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.756G>A
  hgvsp: ENST00000334553.6:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.756G>A
  hgvsp: ENST00000557450.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro424Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-104129226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129226
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129226
    reference: chr 14
allele count: 2
allele frequency: 1.699524133242692e-5
allele num: 117680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.759C>T
  hgvsp: ENST00000246489.7:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.759C>T
  hgvsp: ENST00000380038.3:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.759C>T
  hgvsp: ENST00000554280.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.759C>T
  hgvsp: ENST00000554228.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.759C>T
  hgvsp: ENST00000553286.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.759C>T
  hgvsp: ENST00000557450.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.759C>T
  hgvsp: ENST00000452929.2:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.759C>T
  hgvsp: ENST00000348520.6:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.759C>T
  hgvsp: ENST00000334553.6:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.759C>T
  hgvsp: ENST00000557575.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.759C>T
  hgvsp: ENST00000445352.4:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.759C>T
  hgvsp: ENST00000555836.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1275C>T
  hgvsp: ENST00000472726.2:c.1275C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.759C>T
  hgvsp: ENST00000389744.4:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.759C>T
  hgvsp: ENST00000347839.6:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp425Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-104129232-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129232
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129232
    reference: chr 14
allele count: 1
allele frequency: 8.564136820649846e-6
allele num: 116766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.765C>A
  hgvsp: ENST00000445352.4:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.765C>A
  hgvsp: ENST00000554280.1:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.765C>A
  hgvsp: ENST00000246489.7:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.765C>A
  hgvsp: ENST00000348520.6:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.765C>A
  hgvsp: ENST00000553286.1:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.765C>A
  hgvsp: ENST00000555836.1:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.765C>A
  hgvsp: ENST00000347839.6:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1281C>A
  hgvsp: ENST00000472726.2:c.1281C>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.765C>A
  hgvsp: ENST00000452929.2:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.765C>A
  hgvsp: ENST00000554228.1:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.765C>A
  hgvsp: ENST00000334553.6:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.765C>A
  hgvsp: ENST00000557575.1:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.765C>A
  hgvsp: ENST00000380038.3:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.765C>A
  hgvsp: ENST00000389744.4:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.765C>A
  hgvsp: ENST00000557450.1:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18361
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala427Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

14-104129253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129253
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129253
    reference: chr 14
allele count: 2
allele frequency: 1.796073782710994e-5
allele num: 111354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.786C>G
  hgvsp: ENST00000554228.1:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.786C>G
  hgvsp: ENST00000246489.7:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.786C>G
  hgvsp: ENST00000555836.1:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.786C>G
  hgvsp: ENST00000389744.4:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.786C>G
  hgvsp: ENST00000553286.1:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.786C>G
  hgvsp: ENST00000557575.1:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.786C>G
  hgvsp: ENST00000554280.1:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.786C>G
  hgvsp: ENST00000334553.6:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.786C>G
  hgvsp: ENST00000557450.1:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.786C>G
  hgvsp: ENST00000347839.6:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.786C>G
  hgvsp: ENST00000380038.3:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.786C>G
  hgvsp: ENST00000452929.2:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.786C>G
  hgvsp: ENST00000348520.6:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.786C>G
  hgvsp: ENST00000445352.4:c.786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1302C>G
  hgvsp: ENST00000472726.2:c.1302C>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala434Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

14-104129256-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129256
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129256
    reference: chr 14
allele count: 1
allele frequency: 9.126419158179096e-6
allele num: 109572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.789G>T
  hgvsp: ENSP00000246489.7:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.789G>T
  hgvsp: ENSP00000334618.7:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.789G>T
  hgvsp: ENSP00000412693.4:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.789G>T
  hgvsp: ENSP00000450648.1:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.789G>T
  hgvsp: ENSP00000450616.1:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.789G>T
  hgvsp: ENSP00000414982.2:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.789G>T
  hgvsp: ENSP00000334523.6:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.789G>T
  hgvsp: ENSP00000451242.1:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.789G>T
  hgvsp: ENSP00000452487.1:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.789G>T
  hgvsp: ENSP00000450617.1:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.789G>T
  hgvsp: ENSP00000452481.1:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.789G>T
  hgvsp: ENSP00000374394.3:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.789G>T
  hgvsp: ENSP00000341154.6:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1305G>T
  hgvsp: ENSP00000439065.1:p.Leu435Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.789G>T
  hgvsp: ENSP00000369377.3:p.Leu263Phe
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu435Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

14-104129273-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129273
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129271
    reference: chr 14
allele count: 3
allele frequency: 3.121293464011486e-5
allele num: 96114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+18_791+19delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+12_1313+13delTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+12_797+13delTT
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: CTT
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-104129274-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129274
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129270
    reference: chr 14
allele count: 1
allele frequency: 1.040626040626041e-5
allele num: 96096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+20_791+23delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+14_1313+17delGTTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+14_797+17delGTTT
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: TTTTG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

14-104129285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129285
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129285
    reference: chr 14
allele count: 799
allele frequency: 9.113306111275863e-3
allele num: 87674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+27T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+21T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+21T>C
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 2.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 25966
  bin: 1.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 2.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 1.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
num of homozygotes: 26
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

14-104129288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129288
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129288
    reference: chr 14
allele count: 1
allele frequency: 1.149583850646066e-5
allele num: 86988
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+30T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+24T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+24T>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26216
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

14-104129298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129298
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129298
    reference: chr 14
allele count: 69
allele frequency: 8.695213851853718e-4
allele num: 79354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+34C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+40C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+34C>T
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

14-104129299-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129299
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129299
    reference: chr 14
allele count: 1
allele frequency: 1.274112580587621e-5
allele num: 78486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+41T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+35T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+35T>G
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-104129304-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129304
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129304
    reference: chr 14
allele count: 1
allele frequency: 1.346148668658967e-5
allele num: 74286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+46A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+40A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+40A>T
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-104129305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129305
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129305
    reference: chr 14
allele count: 5
allele frequency: 6.846501437765302e-5
allele num: 73030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+47C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+41C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+41C>T
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/14-104129306-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104129306
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104129306
    reference: chr 14
allele count: 5
allele frequency: 6.999272075704127e-5
allele num: 71436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334618
  ensembl transcript: ENST00000347839
  gene symbol: KLC1
  hgvsc: ENST00000347839.6:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452481
  ensembl transcript: ENST00000555836
  gene symbol: KLC1
  hgvsc: ENST00000555836.1:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000374394
  ensembl transcript: ENST00000389744
  gene symbol: KLC1
  hgvsc: ENST00000389744.4:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000341154
  ensembl transcript: ENST00000348520
  gene symbol: KLC1
  hgvsc: ENST00000348520.6:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000414982
  ensembl transcript: ENST00000452929
  gene symbol: KLC1
  hgvsc: ENST00000452929.2:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450648
  ensembl transcript: ENST00000557450
  gene symbol: KLC1
  hgvsc: ENST00000557450.1:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450616
  ensembl transcript: ENST00000554228
  gene symbol: KLC1
  hgvsc: ENST00000554228.1:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000369377
  ensembl transcript: ENST00000380038
  gene symbol: KLC1
  hgvsc: ENST00000380038.3:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256500
  ensembl protein: ENSP00000439065
  ensembl transcript: ENST00000472726
  gene symbol: RP11-73M18.2
  hgvsc: ENST00000472726.2:c.1313+42A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000412693
  ensembl transcript: ENST00000445352
  gene symbol: KLC1
  hgvsc: ENST00000445352.4:c.791+48A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000452487
  ensembl transcript: ENST00000553286
  gene symbol: KLC1
  hgvsc: ENST00000553286.1:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000246489
  ensembl transcript: ENST00000246489
  gene symbol: KLC1
  hgvsc: ENST00000246489.7:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000334523
  ensembl transcript: ENST00000334553
  gene symbol: KLC1
  hgvsc: ENST00000334553.6:c.797+42A>C
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23751
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-104135809-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104135809
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 104135809
    reference: chr 14
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000451242
  ensembl transcript: ENST00000554280
  gene symbol: KLC1
  hgvsc: ENST00000554280.1:c.798-39T>C
  variant of: http://identifiers.org/hgnc/6387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126214
  ensembl protein: ENSP00000450617
  ensembl transcript: ENST00000557575
  gene symbol: KLC1
  hgvsc: ENST00000557575.1:c.798-39T>C
  variant of: http://identifiers.org/hgnc/6387
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 4037
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 724
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.85112409275978e-5
allele num: 11298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.038421599169263e-4
allele num: 9630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.642e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.435243e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

FS
type: SiteQuality
SIO_000300: 4.773e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

GenotypeDepth
all individuals: 215
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12868
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8361
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59832
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.63e1

DP
type: SiteQuality
SIO_000300: 1.438855e6

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12922
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 379
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.341687552213868e-5
allele num: 59850
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.095e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.83e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
SIO_000300: 3.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 1.441627e6

GenotypeDepth
all individuals: 25
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8372
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28313
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 380
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.203369434416366e-4
allele num: 8310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.669058984544514e-5
allele num: 59914
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

VQSLOD
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SIO_000300: -1.62e0

MQRankSum
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SIO_000300: -9.360000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.343e0

DP
type: SiteQuality
SIO_000300: 1.443553e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ReadPosRankSum
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SIO_000300: 2.91e0

GenotypeDepth
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.337449521075993e-5
allele num: 59926
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.338e0

QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.444153e6

ReadPosRankSum
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SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.96e0

ClippingRankSum
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SIO_000300: -1.248e0

VQSLOD
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SIO_000300: 2.8e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 748
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.009896990506968e-4
allele num: 9902
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59946
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.445006e6

FS
type: SiteQuality
SIO_000300: 3.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
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SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
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SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.035e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.876318312559923e-4
allele num: 10430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60168
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.152e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
SIO_000300: 1.6271e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 1.45459e6

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 11
allele frequency: 1.826211110004316e-4
allele num: 60234
num of homozygotes: 0

Other
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allele count: 1
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allele num: 772
num of homozygotes: 0

South Asian
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allele count: 27
allele frequency: 2.533308313004316e-3
allele num: 10658
num of homozygotes: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11320
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African
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allele count: 3
allele frequency: 3.587658454915092e-4
allele num: 8362
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8280
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

QD
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.7e-3

MQ
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MQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.13e-1

DP
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SIO_000300: 1.4596e6

ReadPosRankSum
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SIO_000300: 6.34e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60392
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11322
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 5.44e-1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655190677966102e-5
allele num: 60416
num of homozygotes: 0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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South Asian
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allele count: 0
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MQRankSum
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SIO_000300: 1.6e0

QD
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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SIO_000300: -2.166e0

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.781e1

ReadPosRankSum
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SIO_000300: -1.27e-1

ClippingRankSum
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SIO_000300: 1.3e0

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

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

East Asian
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allele frequency: 3.617072582589824e-4
allele num: 8294
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.979e1

ReadPosRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

African
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allele frequency: 5.945303210463733e-4
allele num: 8410
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.88e-1

FS
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SIO_000300: 1.209e0

InbreedingCoeff
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SIO_000300: -3.8e-3

QD
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SIO_000300: 1.097e1

DP
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SIO_000300: 1.465609e6

ReadPosRankSum
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SIO_000300: 3.61e-1

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

European (Non-Finnish)
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allele num: 60650
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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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num of homozygotes: 0

East Asian
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South Asian
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Other
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DP
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SIO_000300: 1.470518e6

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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Other
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European (Non-Finnish)
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allele num: 60800
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East Asian
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ClippingRankSum
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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FS
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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Latino
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num of homozygotes: 0

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

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

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

MQRankSum
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SIO_000300: 1.07e0

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.476099e6

ReadPosRankSum
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SIO_000300: -1.78e-1

QD
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SIO_000300: 7.99e0

BaseQRankSum
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SIO_000300: -1.037e0

ClippingRankSum
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SIO_000300: 7.97e-1

FS
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SIO_000300: 5.45e-1

VQSLOD
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SIO_000300: -5.599e-1

InbreedingCoeff
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SIO_000300: 4.3e-3

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.276862076875184e-5
allele num: 61034
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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FS
type: SiteQuality
SIO_000300: 7.19e-1

QD
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -2.9e-3

BaseQRankSum
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SIO_000300: -7.0e-3

ReadPosRankSum
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SIO_000300: 1.77e-1

VQSLOD
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SIO_000300: -8.949e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.632813010254066e-5
allele num: 61244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.76e0

MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 2.193e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

VQSLOD
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SIO_000300: -4.25e-1

BaseQRankSum
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SIO_000300: -1.871e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

DP
type: SiteQuality
SIO_000300: 1.486407e6

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 18

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
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allele count: 141
allele frequency: 1.067373202119606e-2
allele num: 13210
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61386
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.802816901408451e-5
allele num: 11360
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

Other
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allele count: 1
allele frequency: 1.231527093596059e-3
allele num: 812
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.979e1

MQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.248968452516326e-5
allele num: 61558
num of homozygotes: 0

European (Finnish)
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allele count: 0
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FS
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

GenotypeQuality
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variant carriers: 5

African
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allele frequency: 0.0e0
allele num: 8698
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 8.071546185387272e-5
allele num: 61946
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 1.742e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

DP
type: SiteQuality
SIO_000300: 1.50647e6

VQSLOD
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SIO_000300: 2.47e0

QD
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SIO_000300: 1.362e1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
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SIO_000300: 4.02e-1

GenotypeDepth
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.611707442864971e-5
allele num: 62046
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

FS
type: SiteQuality
SIO_000300: 1.855e0

MQ
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SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ClippingRankSum
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SIO_000300: -5.96e-1

DP
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SIO_000300: 1.509121e6

VQSLOD
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SIO_000300: 3.33e-1

InbreedingCoeff
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SIO_000300: -3.0e-3

ReadPosRankSum
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SIO_000300: 4.69e-1

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

South Asian
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allele count: 1
allele frequency: 6.407791874919902e-5
allele num: 15606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 4.764173415912339e-4
allele num: 8396
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 8.004354368776615e-5
allele num: 62466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

QD
type: SiteQuality
SIO_000300: 1.394e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.52535e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.595557966620927e-5
allele num: 62674
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
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SIO_000300: 6.0e1

QD
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DP
type: SiteQuality
SIO_000300: 1.528895e6

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.104e0

BaseQRankSum
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SIO_000300: 3.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e-1

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.594184415253157e-5
allele num: 62728
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele num: 62758
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.77026517531733e-4
allele num: 15914
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185677021579322e-4
allele num: 8434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.182584895452086e-5
allele num: 62842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.627e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.111e0

DP
type: SiteQuality
SIO_000300: 1.534906e6

GenotypeDepth
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bin: 2.75e1
variant carriers: 25

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 22

GenotypeDepth
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GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 25

GenotypeDepth
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GenotypeDepth
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variant carriers: 35

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 529

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1499
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variant carriers: 2

Latino
type: Population
allele count: 24
allele frequency: 2.093875414412842e-3
allele num: 11462
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.309468822170901e-3
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.087182020251914e-4
allele num: 16196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.007852077001013e-4
allele num: 63168
num of homozygotes: 0

African
type: Population
allele count: 487
allele frequency: 5.285435207293249e-2
allele num: 9214
num of homozygotes: 11

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 1.556567e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
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SIO_000300: 3.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 239
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GenotypeQuality
all individuals: 131
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.519756838905775e-4
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63270
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.104e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 1.540642e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.694e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

GenotypeDepth
all individuals: 75
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 390
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 1533
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1742
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570746418698165e-5
allele num: 63664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.550144e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

FS
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63920
num of homozygotes: 0

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

QD
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SIO_000300: 1.272e1

MQ
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InbreedingCoeff
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SIO_000300: -8.0e-4

BaseQRankSum
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MQRankSum
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SIO_000300: 3.92e-1

ClippingRankSum
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SIO_000300: -7.73e-1

FS
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
SIO_000300: 1.55362e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560841605793844e-5
allele num: 64068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

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

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

DP
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SIO_000300: 1.556167e6

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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SIO_000300: 3.2e-2

VQSLOD
type: SiteQuality
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FS
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.097605550909147e-5
allele num: 64566
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQ
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SIO_000300: 5.978e1

QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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FS
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MQRankSum
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SIO_000300: 1.07e0

BaseQRankSum
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SIO_000300: -4.235e0

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele num: 16480
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11502
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.64051478777379e-5
allele num: 64648
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
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SIO_000300: -1.834e0

MQRankSum
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SIO_000300: -8.45e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64722
num of homozygotes: 0

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

Latino
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South Asian
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Other
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VQSLOD
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FS
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 64718
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Latino
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European (Finnish)
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Other
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
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num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64892
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Latino
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MQRankSum
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SIO_000300: -1.693e0

FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.05e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Other
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African
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BaseQRankSum
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SIO_000300: -7.73e-1

VQSLOD
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MQ
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ReadPosRankSum
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QD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 9980
num of homozygotes: 0

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

East Asian
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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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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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ReadPosRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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Other
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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Other
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DP
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FS
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Other
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East Asian
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African
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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MQRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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VQSLOD
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SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.538136e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549858962834382e-5
allele num: 64522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.007658202337767e-4
allele num: 9924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
SIO_000300: 1.15e1

FS
type: SiteQuality
SIO_000300: 4.867e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.53242e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.013581998783702e-4
allele num: 9866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64092
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.5141e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.439e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.06e0

VQSLOD
type: SiteQuality
SIO_000300: -2.136e0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.254149040026033e-5
allele num: 61460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

DP
type: SiteQuality
SIO_000300: 1.414247e6

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.051e-1

QD
type: SiteQuality
SIO_000300: 4.39e0

FS
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652073352056831e-5
allele num: 60530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 1.379879e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.298e0

QD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 58
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.63425396306586e-4
allele num: 12238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
type: SiteQuality
SIO_000300: 1.072463e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 5.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 16
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GenotypeQuality
all individuals: 56
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 816
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 340
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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
all individuals: 2627
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GenotypeQuality
all individuals: 190
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.870767388782879e-5
allele num: 53454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

MQ
type: SiteQuality
SIO_000300: 5.158e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.070636e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.715e1

GenotypeDepth
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variant carriers: 13

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 39

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 5

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 743

GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 751
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variant carriers: 1

GenotypeQuality
all individuals: 1184
bin: 6.75e1
variant carriers: 2

African
type: Population
allele count: 740
allele frequency: 9.395632300660234e-2
allele num: 7876
num of homozygotes: 26

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.227747084100675e-4
allele num: 48870
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 6.116207951070336e-3
allele num: 654
num of homozygotes: 0

Latino
type: Population
allele count: 49
allele frequency: 6.135737540696218e-3
allele num: 7986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: 6.04e0

DP
type: SiteQuality
SIO_000300: 8.54148e5

QD
type: SiteQuality
SIO_000300: 1.585e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.055076037813399e-5
allele num: 48660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.979e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.55e0

DP
type: SiteQuality
SIO_000300: 8.41784e5

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 29

GenotypeDepth
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variant carriers: 24

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 65

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 113
bin: 8.25e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.240043008825769e-5
allele num: 44642
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.655629139072848e-3
allele num: 604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
num of homozygotes: 0

African
type: Population
allele count: 62
allele frequency: 8.84450784593438e-3
allele num: 7010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.965728615213151e-4
allele num: 7178
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 7.37964e5

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.413627367825841e-4
allele num: 7074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
SIO_000300: 7.28157e5

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41832
num of homozygotes: 0

East Asian
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allele count: 1
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allele num: 5358
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South Asian
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allele frequency: 0.0e0
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Other
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QD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.21294454417544e-4
allele num: 41222
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 550
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 6
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3400
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6840
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 7

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40294
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 9.780907668231612e-4
allele num: 5112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4252
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 6.82515e5

QD
type: SiteQuality
SIO_000300: 1.487e1