16-28500737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28500737
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28500737
    reference: chr 16
allele count: 4
allele frequency: 6.831301021279503e-5
allele num: 58554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.357-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.114-754G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-95-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1480-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-37-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-37-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.126-1875G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-95-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.47-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.174-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.126-30G>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-28500744-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28500744
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28500744
    reference: chr 16
allele count: 1
allele frequency: 1.852537977028529e-5
allele num: 53980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.357-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-37-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.126-1882A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1480-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.61-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-95-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.279-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.255-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.174-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-37-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.126-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-37-37A>G
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

16-28500748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28500748
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28500748
    reference: chr 16
allele count: 4
allele frequency: 7.990730752327301e-5
allele num: 50058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-37-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.510-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-37-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-37-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.126-1686C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.47-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1480-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.61-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.174-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-95-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.126-41C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-28500758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28500758
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28500758
    reference: chr 16
allele count: 2
allele frequency: 4.613184481247405e-5
allele num: 43354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.357-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-95-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-95-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-37-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.174-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-95-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.279-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1480-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.126-51C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.126-1696C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-37-51C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-28502752-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502752
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502752
    reference: chr 16
allele count: 1
allele frequency: 9.363646578523541e-6
allele num: 106796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+283T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+283T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+283T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+283T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+283T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+283T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+51T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+283T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+283T>G
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-28502754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502754
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502754
    reference: chr 16
allele count: 317
allele frequency: 2.964667152984307e-3
allele num: 106926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+281A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+281A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+281A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+281A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.125+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+281A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+281A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+49A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+281A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+281A>G
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 4
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

16-28502757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502757
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502757
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 106756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+278G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+278G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+278G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.408+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+278G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.125+46G>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-28502758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502758
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502758
    reference: chr 16
allele count: 2
allele frequency: 1.870837386814338e-5
allele num: 106904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+277G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+277G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+277G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+277G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+277G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+277G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+277G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.125+45G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.408+45G>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

16-28502759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502759
    reference: chr 16
allele count: 19
allele frequency: 1.771760010444059e-4
allele num: 107238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+276A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+276A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+276A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+276A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+276A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+276A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+44A>G
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-28502760-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502760
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502760
    reference: chr 16
allele count: 4
allele frequency: 3.737479443863059e-5
allele num: 107024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+275G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+275G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.408+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+275G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+275G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+43G>C
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

16-28502762-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502762
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502759
    reference: chr 16
allele count: 1
allele frequency: 9.313935510310527e-6
allele num: 107366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+270_-38+272delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+270_-96+272delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+270_173+272delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+38_356+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+38_278+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+270_113+272delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+270_-96+272delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+270_-96+272delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+38_125+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+38_1479+40delGAG
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+270_-38+272delGAG
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TCTC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

16-28502763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502763
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502763
    reference: chr 16
allele count: 1
allele frequency: 9.324009324009324e-6
allele num: 107250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.408+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+272G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+272G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+272G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+272G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+272G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+272G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+40G>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

16-28502765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502765
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502765
    reference: chr 16
allele count: 2
allele frequency: 1.8627524029506e-5
allele num: 107368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+270G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+270G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+270G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+270G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+270G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+270G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+38G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+270G>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

16-28502772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502772
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502772
    reference: chr 16
allele count: 1
allele frequency: 9.215230933687198e-6
allele num: 108516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+263A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+263A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+263A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+263A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+31A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+263A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+263A>G
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

16-28502791-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502791
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502791
    reference: chr 16
allele count: 1
allele frequency: 8.854258898530193e-6
allele num: 112940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+244G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+244G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+244G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+244G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+244G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+12G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+244G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+244G>C
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

16-28502794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502794
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502794
    reference: chr 16
allele count: 1
allele frequency: 8.772237622372715e-6
allele num: 113996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+241C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+241C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+241C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+241C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+241C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+241C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+241C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+9C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-28502794-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502794
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502794
    reference: chr 16
allele count: 1
allele frequency: 8.772237622372715e-6
allele num: 113996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+241C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+241C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+241C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+241C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+241C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.254+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+241C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+9C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+241C>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

16-28502797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502797
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502797
    reference: chr 16
allele count: 1
allele frequency: 8.687644432088684e-6
allele num: 115106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+238T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+238T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+238T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+238T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+6T>C
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.125+6T>C
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

16-28502800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502800
    reference: chr 16
allele count: 1
allele frequency: 8.64707815229234e-6
allele num: 115646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+235G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+235G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.408+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+235G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+3G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+235G>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.125+3G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-28502802-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502802
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502802
    reference: chr 16
allele count: 1
allele frequency: 8.619500758516067e-6
allele num: 116016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+233G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+233G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.278+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.356+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+233G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+233G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1479+1G>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.125+1G>C
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.125+1G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum

16-28502812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502812
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502812
    reference: chr 16
allele count: 1
allele frequency: 8.514116404999489e-6
allele num: 117452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.269T>C
  hgvsp: ENSP00000454899.1:p.Val90Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.116T>C
  hgvsp: ENSP00000456013.1:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.116T>C
  hgvsp: ENSP00000353116.2:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.245T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+223T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+223T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+223T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.116T>C
  hgvsp: ENSP00000349586.5:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+223T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+223T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.116T>C
  hgvsp: ENSP00000458015.1:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.116T>C
  hgvsp: ENSP00000346650.5:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.116T>C
  hgvsp: ENSP00000456693.1:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.116T>C
  hgvsp: ENSP00000456122.1:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.116T>C
  hgvsp: ENSP00000454229.1:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.347T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.116T>C
  hgvsp: ENSP00000329171.9:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.116T>C
  hgvsp: ENSP00000353073.7:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1470T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.116T>C
  hgvsp: ENSP00000350457.7:p.Val39Ala
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val39Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-28502816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502816
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502816
    reference: chr 16
allele count: 1
allele frequency: 8.480901010923401e-6
allele num: 117912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+219G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.395G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+219G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.112G>A
  hgvsp: ENSP00000456013.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.112G>A
  hgvsp: ENSP00000353073.7:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+219G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+219G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.112G>A
  hgvsp: ENSP00000454229.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.112G>A
  hgvsp: ENSP00000456122.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.112G>A
  hgvsp: ENSP00000458015.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.112G>A
  hgvsp: ENSP00000347660.5:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.112G>A
  hgvsp: ENSP00000349586.5:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.112G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+219G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.112G>A
  hgvsp: ENSP00000329171.9:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.112G>A
  hgvsp: ENSP00000456414.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.112G>A
  hgvsp: ENSP00000456117.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.112G>A
  hgvsp: ENSP00000350457.7:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.112G>A
  hgvsp: ENSP00000455342.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala38Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-28502817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502817
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502817
    reference: chr 16
allele count: 1
allele frequency: 8.471848048933394e-6
allele num: 118038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+218C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.394C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.111C>T
  hgvsp: ENST00000567804.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+218C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.111C>T
  hgvsp: ENST00000360019.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.111C>T
  hgvsp: ENST00000569030.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+218C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.111C>T
  hgvsp: ENST00000357806.7:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+218C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.111C>T
  hgvsp: ENST00000566057.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.111C>T
  hgvsp: ENST00000359984.7:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.111C>T
  hgvsp: ENST00000355477.5:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+218C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.240C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.111C>T
  hgvsp: ENST00000567963.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+218C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.111C>T
  hgvsp: ENST00000333496.9:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.111C>T
  hgvsp: ENST00000565316.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.111C>T
  hgvsp: ENST00000357076.5:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.111C>T
  hgvsp: ENST00000567495.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn37Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

16-28502820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502820
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502820
    reference: chr 16
allele count: 2
allele frequency: 1.690845761049677e-5
allele num: 118284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.108G>A
  hgvsp: ENST00000360019.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.108G>A
  hgvsp: ENST00000359984.7:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.261G>A
  hgvsp: ENST00000568443.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.108G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.108G>A
  hgvsp: ENST00000354630.5:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+215G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.108G>A
  hgvsp: ENST00000569030.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.237G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.108G>A
  hgvsp: ENST00000565778.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.108G>A
  hgvsp: ENST00000567804.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.108G>A
  hgvsp: ENST00000357806.7:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.108G>A
  hgvsp: ENST00000565688.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.108G>A
  hgvsp: ENST00000567963.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.108G>A
  hgvsp: ENST00000357076.5:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.108G>A
  hgvsp: ENST00000355477.5:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.108G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+215G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.108G>A
  hgvsp: ENST00000333496.9:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+215G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.108G>A
  hgvsp: ENST00000566057.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys36Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

16-28502823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502823
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502823
    reference: chr 16
allele count: 1
allele frequency: 8.444376889429329e-6
allele num: 118422
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.105G>A
  hgvsp: ENSP00000455342.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.105G>A
  hgvsp: ENSP00000456693.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.105G>A
  hgvsp: ENSP00000456117.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.105G>A
  hgvsp: ENSP00000458015.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.105G>A
  hgvsp: ENSP00000456414.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.105G>A
  hgvsp: ENSP00000353073.7:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.105G>A
  hgvsp: ENSP00000349586.5:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.105G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+212G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.105G>A
  hgvsp: ENSP00000455365.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.234G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.105G>A
  hgvsp: ENSP00000346650.5:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+212G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.105G>A
  hgvsp: ENSP00000454680.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.105G>A
  hgvsp: ENSP00000456122.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.105G>A
  hgvsp: ENSP00000455387.1:p.Trp35Ter
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+212G>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp35Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-28502826-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502826
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502826
    reference: chr 16
allele count: 1
allele frequency: 8.429855175088092e-6
allele num: 118626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.102T>C
  hgvsp: ENST00000357076.5:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.255T>C
  hgvsp: ENST00000568443.1:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.102T>C
  hgvsp: ENST00000569430.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.102T>C
  hgvsp: ENST00000355477.5:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.102T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.102T>C
  hgvsp: ENST00000565688.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.102T>C
  hgvsp: ENST00000333496.9:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.102T>C
  hgvsp: ENST00000565140.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.102T>C
  hgvsp: ENST00000565778.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.102T>C
  hgvsp: ENST00000360019.2:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.102T>C
  hgvsp: ENST00000569030.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.102T>C
  hgvsp: ENST00000567963.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.102T>C
  hgvsp: ENST00000567804.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.102T>C
  hgvsp: ENST00000359984.7:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.102T>C
  hgvsp: ENST00000566057.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.385T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.231T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+209T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+209T>C
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His34His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

16-28502827-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502827
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502827
    reference: chr 16
allele count: 1
allele frequency: 8.428150021070375e-6
allele num: 118650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.101A>T
  hgvsp: ENSP00000458015.1:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1455A>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.101A>T
  hgvsp: ENSP00000456117.1:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.332A>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.101A>T
  hgvsp: ENSP00000329171.9:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.230A>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+208A>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.254A>T
  hgvsp: ENSP00000454899.1:p.His85Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.101A>T
  hgvsp: ENSP00000346650.5:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.101A>T
  hgvsp: ENSP00000349586.5:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.384A>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.101A>T
  hgvsp: ENSP00000353116.2:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.101A>T
  hgvsp: ENSP00000347660.5:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.101A>T
  hgvsp: ENSP00000350457.7:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.101A>T
  hgvsp: ENSP00000455387.1:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.101A>T
  hgvsp: ENSP00000455342.1:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+208A>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.101A>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.101A>T
  hgvsp: ENSP00000456122.1:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.101A>T
  hgvsp: ENSP00000353073.7:p.His34Leu
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His34Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-28502827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502827
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502827
    reference: chr 16
allele count: 1
allele frequency: 8.428150021070375e-6
allele num: 118650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+208A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.101A>G
  hgvsp: ENSP00000456122.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+208A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+208A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1455A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.101A>G
  hgvsp: ENSP00000353116.2:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+208A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.101A>G
  hgvsp: ENSP00000350457.7:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.101A>G
  hgvsp: ENSP00000353073.7:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.101A>G
  hgvsp: ENSP00000456013.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.101A>G
  hgvsp: ENSP00000456693.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.101A>G
  hgvsp: ENSP00000454680.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+208A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.101A>G
  hgvsp: ENSP00000349586.5:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.254A>G
  hgvsp: ENSP00000454899.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.101A>G
  hgvsp: ENSP00000458015.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.332A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.101A>G
  hgvsp: ENSP00000329171.9:p.His34Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.384A>G
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His34Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

16-28502855-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502855
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502855
    reference: chr 16
allele count: 2
allele frequency: 1.684692880487887e-5
allele num: 118716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.73C>A
  hgvsp: ENSP00000455387.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.73C>A
  hgvsp: ENSP00000454680.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.73C>A
  hgvsp: ENSP00000455342.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.73C>A
  hgvsp: ENSP00000458015.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+180C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.73C>A
  hgvsp: ENSP00000456122.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.73C>A
  hgvsp: ENSP00000349586.5:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.73C>A
  hgvsp: ENSP00000347660.5:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.73C>A
  hgvsp: ENSP00000346650.5:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.304C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.73C>A
  hgvsp: ENSP00000456117.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+180C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+180C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.73C>A
  hgvsp: ENSP00000456693.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+180C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.73C>A
  hgvsp: ENSP00000353116.2:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.73C>A
  hgvsp: ENSP00000350457.7:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.202C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+180C>A
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu25Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-28502856-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502856
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502856
    reference: chr 16
allele count: 1
allele frequency: 8.436397995511836e-6
allele num: 118534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.72G>T
  hgvsp: ENST00000355477.5:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+179G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.72G>T
  hgvsp: ENST00000565778.1:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.72G>T
  hgvsp: ENST00000567963.1:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+179G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.303G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.72G>T
  hgvsp: ENST00000359984.7:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.72G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.225G>T
  hgvsp: ENST00000568443.1:c.225G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.72G>T
  hgvsp: ENST00000569430.1:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+179G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+179G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.72G>T
  hgvsp: ENST00000333496.9:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+179G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.201G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.72G>T
  hgvsp: ENST00000566057.1:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+179G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.72G>T
  hgvsp: ENST00000565688.1:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.72G>T
  hgvsp: ENST00000360019.2:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.72G>T
  hgvsp: ENST00000357076.5:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg24Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

16-28502857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502857
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502857
    reference: chr 16
allele count: 1
allele frequency: 8.435828651448432e-6
allele num: 118542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.71G>A
  hgvsp: ENSP00000456693.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.302G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.71G>A
  hgvsp: ENSP00000353073.7:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.71G>A
  hgvsp: ENSP00000456414.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.71G>A
  hgvsp: ENSP00000456013.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.71G>A
  hgvsp: ENSP00000454229.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.71G>A
  hgvsp: ENSP00000353116.2:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.71G>A
  hgvsp: ENSP00000346650.5:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.71G>A
  hgvsp: ENSP00000458015.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+178G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.71G>A
  hgvsp: ENSP00000455342.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+178G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.71G>A
  hgvsp: ENSP00000350457.7:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+178G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.71G>A
  hgvsp: ENSP00000456117.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.354G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.71G>A
  hgvsp: ENSP00000455365.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.71G>A
  hgvsp: ENSP00000347660.5:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.71G>A
  hgvsp: ENSP00000349586.5:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg24Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

16-28502859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502859
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502859
    reference: chr 16
allele count: 1
allele frequency: 8.431703204047217e-6
allele num: 118600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.69C>T
  hgvsp: ENST00000333496.9:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.69C>T
  hgvsp: ENST00000565688.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.222C>T
  hgvsp: ENST00000568443.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.69C>T
  hgvsp: ENST00000357076.5:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.300C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.69C>T
  hgvsp: ENST00000360019.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.69C>T
  hgvsp: ENST00000357806.7:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+176C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.69C>T
  hgvsp: ENST00000567963.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.69C>T
  hgvsp: ENST00000355477.5:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.69C>T
  hgvsp: ENST00000565140.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+176C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.69C>T
  hgvsp: ENST00000359984.7:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.69C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.352C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.69C>T
  hgvsp: ENST00000354630.5:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.69C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1423C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.69C>T
  hgvsp: ENST00000567495.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro23Pro
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

16-28502861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502861
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502861
    reference: chr 16
allele count: 4
allele frequency: 3.3750147656896e-5
allele num: 118518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.67C>T
  hgvsp: ENSP00000456693.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+174C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.67C>T
  hgvsp: ENSP00000456414.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.67C>T
  hgvsp: ENSP00000455342.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.67C>T
  hgvsp: ENSP00000349586.5:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.67C>T
  hgvsp: ENSP00000353073.7:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.298C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+174C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.67C>T
  hgvsp: ENSP00000456117.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1421C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.67C>T
  hgvsp: ENSP00000458015.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.67C>T
  hgvsp: ENSP00000456122.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.67C>T
  hgvsp: ENSP00000350457.7:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.67C>T
  hgvsp: ENSP00000353116.2:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.67C>T
  hgvsp: ENSP00000454229.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+174C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.67C>T
  hgvsp: ENSP00000329171.9:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.220C>T
  hgvsp: ENSP00000454899.1:p.Pro74Ser
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+174C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro23Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-28502866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502866
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502866
    reference: chr 16
allele count: 3
allele frequency: 2.534725742674643e-5
allele num: 118356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+169C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.62C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.62C>T
  hgvsp: ENSP00000456693.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.62C>T
  hgvsp: ENSP00000456117.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.62C>T
  hgvsp: ENSP00000456414.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.62C>T
  hgvsp: ENSP00000455387.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.62C>T
  hgvsp: ENSP00000456122.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.62C>T
  hgvsp: ENSP00000349586.5:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+169C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.62C>T
  hgvsp: ENSP00000353073.7:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.345C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+169C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.62C>T
  hgvsp: ENSP00000458015.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.62C>T
  hgvsp: ENSP00000353116.2:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.191C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.62C>T
  hgvsp: ENSP00000329171.9:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.62C>T
  hgvsp: ENSP00000347660.5:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.215C>T
  hgvsp: ENSP00000454899.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+169C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro21Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-28502866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502866
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502866
    reference: chr 16
allele count: 2
allele frequency: 1.689817161783095e-5
allele num: 118356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.62C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.62C>G
  hgvsp: ENSP00000350457.7:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.215C>G
  hgvsp: ENSP00000454899.1:p.Pro72Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.62C>G
  hgvsp: ENSP00000456122.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.62C>G
  hgvsp: ENSP00000458015.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.62C>G
  hgvsp: ENSP00000455387.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.62C>G
  hgvsp: ENSP00000353073.7:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.62C>G
  hgvsp: ENSP00000346650.5:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.62C>G
  hgvsp: ENSP00000454680.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1416C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.62C>G
  hgvsp: ENSP00000456117.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.62C>G
  hgvsp: ENSP00000349586.5:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.62C>G
  hgvsp: ENSP00000455342.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.62C>G
  hgvsp: ENSP00000454229.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.62C>G
  hgvsp: ENSP00000456013.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.293C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.62C>G
  hgvsp: ENSP00000347660.5:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.345C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.62C>G
  hgvsp: ENSP00000456414.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro21Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

16-28502872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502872
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502872
    reference: chr 16
allele count: 2
allele frequency: 1.691560803153069e-5
allele num: 118234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.56C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.56C>T
  hgvsp: ENSP00000353073.7:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.339C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+163C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.56C>T
  hgvsp: ENSP00000455342.1:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1410C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.56C>T
  hgvsp: ENSP00000329171.9:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.56C>T
  hgvsp: ENSP00000350457.7:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.56C>T
  hgvsp: ENSP00000353116.2:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.56C>T
  hgvsp: ENSP00000456117.1:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.56C>T
  hgvsp: ENSP00000349586.5:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+163C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.56C>T
  hgvsp: ENSP00000455365.1:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.56C>T
  hgvsp: ENSP00000456122.1:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.56C>T
  hgvsp: ENSP00000454680.1:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.185C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+163C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.56C>T
  hgvsp: ENSP00000458015.1:p.Thr19Ile
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+163C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.209C>T
  hgvsp: ENSP00000454899.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr19Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

16-28502879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502879
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502879
    reference: chr 16
allele count: 1
allele frequency: 8.483347189467077e-6
allele num: 117878
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+156G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.49G>A
  hgvsp: ENSP00000353116.2:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.49G>A
  hgvsp: ENSP00000347660.5:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.280G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.49G>A
  hgvsp: ENSP00000353073.7:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.178G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+156G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.49G>A
  hgvsp: ENSP00000456693.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.49G>A
  hgvsp: ENSP00000456414.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.49G>A
  hgvsp: ENSP00000349586.5:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.49G>A
  hgvsp: ENSP00000350457.7:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.332G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.49G>A
  hgvsp: ENSP00000454680.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.49G>A
  hgvsp: ENSP00000454229.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.49G>A
  hgvsp: ENSP00000458015.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+156G>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.49G>A
  hgvsp: ENSP00000455342.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/2074
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu17Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

16-28502884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502884
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502884
    reference: chr 16
allele count: 3
allele frequency: 2.552887315553891e-5
allele num: 117514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+151C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.197C>T
  hgvsp: ENSP00000454899.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+151C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.330-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-3C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-3C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro66Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-28502887-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502887
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502887
    reference: chr 16
allele count: 1
allele frequency: 8.526893823118114e-6
allele num: 117276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+148T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.194T>C
  hgvsp: ENSP00000454899.1:p.Leu65Pro
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-6T>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+148T>C
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu65Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

16-28502888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502888
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502888
    reference: chr 16
allele count: 2
allele frequency: 1.70587332184712e-5
allele num: 117242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+147C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+147C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+147C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+147C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+147C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.330-7C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.193C>T
  hgvsp: ENSP00000454899.1:p.Leu65Phe
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu65Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

16-28502890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502890
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502890
    reference: chr 16
allele count: 3
allele frequency: 2.560426054895535e-5
allele num: 117168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+145C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+145C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.191C>T
  hgvsp: ENSP00000454899.1:p.Ala64Val
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.269C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+145C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+145C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+145C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+145C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+145C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-9C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala64Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

16-28502892-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502892
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502892
    reference: chr 16
allele count: 3
allele frequency: 2.562525625256252e-5
allele num: 117072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+143C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+143C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+143C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+143C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.189C>A
  hgvsp: ENST00000568443.1:c.189C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+143C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+143C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.47-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.330-11C>A
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.267C>A
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu63Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

16-28502894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502894
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502894
    reference: chr 16
allele count: 1
allele frequency: 8.541460248044005e-6
allele num: 117076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.265C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.187C>T
  hgvsp: ENSP00000454899.1:p.Leu63Phe
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+141C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+141C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+141C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+141C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+141C>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-13C>T
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu63Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/16-28502907-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502907
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502907
    reference: chr 16
allele count: 1
allele frequency: 8.614154779133072e-6
allele num: 116088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+128G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.330-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+128G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+128G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.252G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+128G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+128G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.174G>T
  hgvsp: ENST00000568443.1:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+128G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-26G>T
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+128G>T
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly58Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-28502916-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502916
    reference: chr 16
allele count: 1
allele frequency: 8.64274355251331e-6
allele num: 115704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+119T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+119T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+119T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.165T>G
  hgvsp: ENSP00000454899.1:p.Ser55Arg
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+119T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+119T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.330-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.47-35T>G
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser55Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

16-28502918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502918
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502918
    reference: chr 16
allele count: 6
allele frequency: 5.180720810955497e-5
allele num: 115814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+117A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+117A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+117A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.330-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.241A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.163A>G
  hgvsp: ENSP00000454899.1:p.Ser55Gly
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+117A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350457
  ensembl transcript: ENST00000357806
  gene symbol: CLN3
  hgvsc: ENST00000357806.7:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+117A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-37A>G
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser55Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

16-28502920-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502920
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502920
    reference: chr 16
allele count: 1
allele frequency: 8.640353908896108e-6
allele num: 115736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.161A>C
  hgvsp: ENSP00000454899.1:p.Glu54Ala
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+115A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.239A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+115A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+115A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455365
  ensembl transcript: ENST00000567804
  gene symbol: CLN3
  hgvsc: ENST00000567804.1:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+115A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+115A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+115A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.47-39A>C
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu54Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

16-28502921-C-CAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502921
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502923
    reference: chr 16
allele count: 3
allele frequency: 2.594527277130107e-5
allele num: 115628
alternate allele: CAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.236_237dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+112_60+113dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.158_159dupCT
  hgvsp: ENSP00000454899.1:p.Glu54LeufsTer53
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-42_176-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+112_-38+113dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+112_46+113dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+112_-38+113dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+112_-96+113dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+112_173+113dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-42_1401-41dupCT
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-42_47-41dupCT
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu54LeufsTer53
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/16-28502922-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502922
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502922
    reference: chr 16
allele count: 1
allele frequency: 8.64677907479464e-6
allele num: 115650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456414
  ensembl transcript: ENST00000568497
  gene symbol: CLN3
  hgvsc: ENST00000568497.1:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000458015
  ensembl transcript: ENST00000565778
  gene symbol: CLN3
  hgvsc: ENST00000565778.1:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456693
  ensembl transcript: ENST00000566057
  gene symbol: CLN3
  hgvsc: ENST00000566057.1:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568076
  gene symbol: CLN3
  hgvsc: ENST00000568076.1:n.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.159T>G
  hgvsp: ENST00000568443.1:c.159T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456013
  ensembl transcript: ENST00000567495
  gene symbol: CLN3
  hgvsc: ENST00000567495.1:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+113T>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-41T>G
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro53Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-28502925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502925
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502925
    reference: chr 16
allele count: 1
allele frequency: 8.658758334054896e-6
allele num: 115490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000379014
  ensembl transcript: ENST00000395653
  gene symbol: CLN3
  hgvsc: ENST00000395653.4:c.-96+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.234A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455342
  ensembl transcript: ENST00000565140
  gene symbol: CLN3
  hgvsc: ENST00000565140.1:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000443221
  ensembl transcript: ENST00000535392
  gene symbol: CLN3
  hgvsc: ENST00000535392.1:c.-38+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000347660
  ensembl transcript: ENST00000355477
  gene symbol: CLN3
  hgvsc: ENST00000355477.5:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000329171
  ensembl transcript: ENST00000333496
  gene symbol: CLN3
  hgvsc: ENST00000333496.9:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.156A>G
  hgvsp: ENST00000568443.1:c.156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-44A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455549
  ensembl transcript: ENST00000568422
  gene symbol: CLN3
  hgvsc: ENST00000568422.1:c.-96+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000457615
  ensembl transcript: ENST00000561505
  gene symbol: CLN3
  hgvsc: ENST00000561505.1:c.-96+110A>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568472
  gene symbol: CLN3
  hgvsc: ENST00000568472.1:n.60+110A>G
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala52Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

16-28502941-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28502941
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28502941
    reference: chr 16
allele count: 1839
allele frequency: 1.595246356696738e-2
allele num: 115280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353073
  ensembl transcript: ENST00000359984
  gene symbol: CLN3
  hgvsc: ENST00000359984.7:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454229
  ensembl transcript: ENST00000569430
  gene symbol: CLN3
  hgvsc: ENST00000569430.1:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454680
  ensembl transcript: ENST00000569030
  gene symbol: CLN3
  hgvsc: ENST00000569030.1:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000454899
  ensembl transcript: ENST00000568443
  gene symbol: CLN3
  hgvsc: ENST00000568443.1:c.140C>G
  hgvsp: ENSP00000454899.1:p.Ala47Gly
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261832
  ensembl protein: ENSP00000454253
  ensembl transcript: ENST00000568224
  gene symbol: CLN3
  hgvsc: ENST00000568224.1:c.-38+94C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565047
  gene symbol: CLN3
  hgvsc: ENST00000565047.1:n.113+94C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000563874
  gene symbol: CLN3
  hgvsc: ENST00000563874.1:n.1401-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000350523
  ensembl transcript: ENST00000357857
  gene symbol: CLN3
  hgvsc: ENST00000357857.9:c.-38+94C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566824
  gene symbol: CLN3
  hgvsc: ENST00000566824.1:n.176-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000353116
  ensembl transcript: ENST00000360019
  gene symbol: CLN3
  hgvsc: ENST00000360019.2:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000561689
  gene symbol: CLN3
  hgvsc: ENST00000561689.1:n.46+94C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455603
  ensembl transcript: ENST00000568558
  gene symbol: CLN3
  hgvsc: ENST00000568558.1:c.-38+94C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000568452
  gene symbol: CLN3
  hgvsc: ENST00000568452.1:n.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000346650
  ensembl transcript: ENST00000354630
  gene symbol: CLN3
  hgvsc: ENST00000354630.5:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456122
  ensembl transcript: ENST00000565688
  gene symbol: CLN3
  hgvsc: ENST00000565688.1:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000564574
  gene symbol: CLN3
  hgvsc: ENST00000564574.1:n.173+94C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000565236
  gene symbol: CLN3
  hgvsc: ENST00000565236.1:n.330-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000349586
  ensembl transcript: ENST00000357076
  gene symbol: CLN3
  hgvsc: ENST00000357076.5:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188603
  ensembl transcript: ENST00000566083
  gene symbol: CLN3
  hgvsc: ENST00000566083.1:n.218C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000456117
  ensembl transcript: ENST00000565316
  gene symbol: CLN3
  hgvsc: ENST00000565316.1:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188603
  ensembl protein: ENSP00000455387
  ensembl transcript: ENST00000567963
  gene symbol: CLN3
  hgvsc: ENST00000567963.1:c.47-60C>G
  variant of: http://identifiers.org/hgnc/2074
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Ala47Gly
num of homozygotes: 29
reference allele: G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-95-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-37-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.255-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-37-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.126-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.126-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.126-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.126-1675G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.126-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.61-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.126-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.126-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.126-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.510-30G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.279-30G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 445
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8405
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2026
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16427
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22162
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5262
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 280
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9577
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 25627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9710
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.21240533717995e-4
allele num: 5546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.44031e6

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 4.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.294e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-37-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-95-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.126-1682A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.510-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.114-761A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-95-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.126-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.126-37A>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 9443
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 500
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5261
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14286
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23562
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9707
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4440
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22532
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.439262622093823e-5
allele num: 29076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2004
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

DP
type: SiteQuality
SIO_000300: 1.41426e6

FS
type: SiteQuality
SIO_000300: 3.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.048e0

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.678e0

QD
type: SiteQuality
SIO_000300: 8.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.126-1886C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-37-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.357-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.126-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.114-765C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.126-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.279-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-95-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.126-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.126-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.126-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.126-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.126-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.255-41C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-95-41C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9686
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1976
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12522
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25099
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 349
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5261
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4962
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5633
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11861
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9708
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 434
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1804
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.357773251866938e-3
allele num: 2946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.268e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.282e0

DP
type: SiteQuality
SIO_000300: 1.396889e6

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.126-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.126-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.126-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.47-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.255-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.126-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-37-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.126-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.126-1896C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-37-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.114-775C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.126-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.126-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.510-51C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.61-51C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 260
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9897
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1801
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5261
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27356
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 397
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10077
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11344
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11298
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6874
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9706
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.314063848144953e-4
allele num: 2318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.411116012351125e-5
allele num: 22670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.585e-1

QD
type: SiteQuality
SIO_000300: 7.34e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.885e0

DP
type: SiteQuality
SIO_000300: 1.382926e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+283T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.254+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+283T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.356+51T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+283T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+51T>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 1219
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4021
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16597
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2393
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6539
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9012
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16349
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5831
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6316
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5002
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6664
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.678242286630158e-5
allele num: 14974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 6.899e0

QD
type: SiteQuality
SIO_000300: 1.589e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.331e0

DP
type: SiteQuality
SIO_000300: 1.416528e6

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.821e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+281A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+281A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.125+49A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+281A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+49A>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2393
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 3.75e1
variant carriers: 8

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 4.25e1
variant carriers: 7

GenotypeDepth
all individuals: 507
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 192
bin: 4.75e1
variant carriers: 5

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16592
bin: 1.25e1
variant carriers: 96

GenotypeDepth
all individuals: 10043
bin: 2.25e1
variant carriers: 49

GenotypeDepth
all individuals: 247
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15333
bin: 1.75e1
variant carriers: 92

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 174
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6514
bin: 7.5e0
variant carriers: 40

GenotypeDepth
all individuals: 441
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1227
bin: 3.25e1
variant carriers: 19

GenotypeDepth
all individuals: 4029
bin: 2.75e1
variant carriers: 29

GenotypeQuality
all individuals: 689
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4309
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 6196
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9346
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3609
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7065
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6167
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 6318
bin: 9.75e1
variant carriers: 317

GenotypeQuality
all individuals: 1155
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3519
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 430
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 2

Latino
type: Population
allele count: 14
allele frequency: 1.382579498321154e-3
allele num: 10126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.265822784810127e-3
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.772085463718552e-5
allele num: 59066
num of homozygotes: 0

African
type: Population
allele count: 298
allele frequency: 3.3710407239819e-2
allele num: 8840
num of homozygotes: 4

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

DP
type: SiteQuality
SIO_000300: 1.420699e6

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+278G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+278G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+278G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.125+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+278G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.125+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.125+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+278G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+46G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+278G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+278G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 4144
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13023
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16519
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12372
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1249
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2390
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6450
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7017
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6016
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5635
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.73e0

QD
type: SiteQuality
SIO_000300: 7.64e0

DP
type: SiteQuality
SIO_000300: 1.43167e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+277G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.356+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+277G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+277G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.254+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.125+45G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+277G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 1258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2390
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13141
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6438
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12274
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4202
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6989
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6573
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.261931689662972e-4
allele num: 8842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59054
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.915e0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

DP
type: SiteQuality
SIO_000300: 1.435938e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.216e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+276A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+276A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+276A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+276A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.125+44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+276A>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2390
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4219
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 11525
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 478
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1262
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6438
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 13948
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 16381
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14061
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4944
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1971
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6943
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6700
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6033
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 381
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 17
allele frequency: 1.917004961659901e-3
allele num: 8868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59242
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.966568338249754e-4
allele num: 10170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.439812e6

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+275G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+275G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+275G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.125+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.125+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+275G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+275G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+275G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+43G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+275G>C
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14673
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4277
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6424
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16244
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2389
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10893
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6854
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59120
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.662761283450939e-4
allele num: 15022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.444604e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.556e1

FS
type: SiteQuality
SIO_000300: 1.069e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+270_-38+272delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+270_60+272delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+38_408+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+270_46+272delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+270_-38+272delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.254+38_254+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.125+38_125+40delGAG
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16599
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15890
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6426
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4350
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9263
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16580
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3772
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6600
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

MQ
type: SiteQuality
SIO_000300: 5.686e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.45567e6

QD
type: SiteQuality
SIO_000300: 1.434e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+272G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+272G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+272G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+272G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+272G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.125+40G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4440
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8608
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15646
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17424
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6405
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1304
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6389
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.260398285858331e-4
allele num: 7934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.466e1

MQRankSum
type: SiteQuality
SIO_000300: -1.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.211e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 2.649e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.462026e6

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+270G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+270G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+270G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+38G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+270G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+38G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4613
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7197
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15038
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1341
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6353
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19331
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59320
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.24618149146451e-4
allele num: 8904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15060
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.476556e6

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

FS
type: SiteQuality
SIO_000300: 4.225e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 1.317e1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+263A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+263A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+263A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+263A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+263A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+31A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+31A>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24850
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1443
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11987
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6091
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4103
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5521
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25436
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666666666666667e-5
allele num: 60000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15154
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.693e1

DP
type: SiteQuality
SIO_000300: 1.531138e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+244G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+244G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+244G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+244G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+12G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.254+12G>C
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 33944
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4057
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1838
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1266
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4596
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598721023181455e-5
allele num: 62550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.671491e6

QD
type: SiteQuality
SIO_000300: 1.416e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1479+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+241C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+241C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+241C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+241C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3720
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1945
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3576
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34731
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9151
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38414
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583481124904991e-5
allele num: 63152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.693641e6

FS
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+241C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+241C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.278+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+241C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+241C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.125+9C>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3720
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1945
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1035
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34731
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3576
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9151
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1513
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38414
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63152
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.058201058201058e-4
allele num: 9450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

FS
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

DP
type: SiteQuality
SIO_000300: 1.693641e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.254+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+238T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+238T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+238T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+238T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+238T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+238T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+238T>C
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2957
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1954
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35679
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3072
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9683
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567938787669729e-5
allele num: 63778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 4.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.373e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.71242e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.125+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.125+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1479+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.125+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+235G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.125+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.356+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+235G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.125+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+235G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+235G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+235G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+235G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.254+3G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+235G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+3G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2779
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 753
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2501
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36141
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560792882784454e-5
allele num: 64070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11038
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: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.298e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.235e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.724195e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.092e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.95e-1

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.125+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+233G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.125+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.125+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+233G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+233G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_donor_variant
consequence: non_coding_transcript_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.254+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+233G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+233G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+233G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_donor_variant
consequence: non_coding_transcript_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.408+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.125+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.125+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.125+1G>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+233G>C
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 726
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2302
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10112
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2050
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2616
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36367
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.028530155290719e-5
allele num: 11076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.729548e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 8.92e0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+223T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.116T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.116T>C
hgvsp: ENSP00000456414.1:p.Val39Ala
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.399T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.116T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.116T>C
hgvsp: ENSP00000454680.1:p.Val39Ala
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+223T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+223T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+223T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.116T>C
hgvsp: ENSP00000455387.1:p.Val39Ala
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.116T>C
hgvsp: ENSP00000456117.1:p.Val39Ala
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+223T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.116T>C
hgvsp: ENSP00000455342.1:p.Val39Ala
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.116T>C
hgvsp: ENSP00000347660.5:p.Val39Ala
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+223T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.116T>C
hgvsp: ENSP00000455365.1:p.Val39Ala
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 10942
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36911
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2146
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1922
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

DP
type: SiteQuality
SIO_000300: 1.75269e6

VQSLOD
type: SiteQuality
SIO_000300: -2.381e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+219G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+219G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.112G>A
hgvsp: ENSP00000455365.1:p.Ala38Thr
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.265G>A
hgvsp: ENSP00000454899.1:p.Ala89Thr
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+219G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.112G>A
hgvsp: ENSP00000353116.2:p.Ala38Thr
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.112G>A
hgvsp: ENSP00000455387.1:p.Ala38Thr
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.112G>A
hgvsp: ENSP00000456693.1:p.Ala38Thr
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.241G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.112G>A
hgvsp: ENSP00000346650.5:p.Ala38Thr
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1466G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+219G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.112G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+219G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.343G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.112G>A
hgvsp: ENSP00000454680.1:p.Ala38Thr
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+219G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 565
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36945
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11282
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1689
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2240
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.009896990506968e-4
allele num: 9902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65200
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.761596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

QD
type: SiteQuality
SIO_000300: 6.05e0

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.344e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.111C>T
hgvsp: ENST00000565688.1:c.111C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.111C>T
hgvsp: ENST00000565778.1:c.111C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.111C>T
hgvsp: ENST00000569430.1:c.111C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+218C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.111C>T
hgvsp: ENST00000568497.1:c.111C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.111C>T
hgvsp: ENST00000354630.5:c.111C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+218C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.111C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.111C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+218C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+218C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.342C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.111C>T
hgvsp: ENST00000565140.1:c.111C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.264C>T
hgvsp: ENST00000568443.1:c.264C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+218C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1465C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1628
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11344
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37000
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2235
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1415
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6022
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532379171902295e-5
allele num: 65258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

DP
type: SiteQuality
SIO_000300: 1.763295e6

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.151e0

FS
type: SiteQuality
SIO_000300: 9.823e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.391G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.339G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1462G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.108G>A
hgvsp: ENST00000565140.1:c.108G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.108G>A
hgvsp: ENST00000569430.1:c.108G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.108G>A
hgvsp: ENST00000568497.1:c.108G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.108G>A
hgvsp: ENST00000565316.1:c.108G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+215G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.108G>A
hgvsp: ENST00000567495.1:c.108G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2231
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11430
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37102
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1342
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1510
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6022
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.830801836806782e-5
allele num: 11324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.996e0

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

FS
type: SiteQuality
SIO_000300: 1.732e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 1.51e1

DP
type: SiteQuality
SIO_000300: 1.766364e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: stop_gained
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.105G>A
hgvsp: ENSP00000350457.7:p.Trp35Ter
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
clinical significance: likely_pathogenic
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: stop_gained
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.105G>A
hgvsp: ENSP00000347660.5:p.Trp35Ter
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.388G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: stop_gained
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.105G>A
hgvsp: ENSP00000353116.2:p.Trp35Ter
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1459G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.336G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: stop_gained
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.105G>A
hgvsp: ENSP00000329171.9:p.Trp35Ter
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
clinical significance: likely_pathogenic
consequence: stop_gained
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.105G>A
hgvsp: ENSP00000454229.1:p.Trp35Ter
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: stop_gained
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.105G>A
hgvsp: ENSP00000456013.1:p.Trp35Ter
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.105G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+212G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: stop_gained
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.258G>A
hgvsp: ENSP00000454899.1:p.Trp86Ter
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 1344
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37021
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1432
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11529
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1120
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.164468006411046e-5
allele num: 16222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 1.125e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 1.76818e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.102T>C
hgvsp: ENST00000565316.1:c.102T>C(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1456T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.102T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.102T>C
hgvsp: ENST00000354630.5:c.102T>C(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.102T>C
hgvsp: ENST00000567495.1:c.102T>C(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.333T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.102T>C
hgvsp: ENST00000357806.7:c.102T>C(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+209T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.102T>C
hgvsp: ENST00000568497.1:c.102T>C(p.%3D)
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1345
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1294
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2236
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37125
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 380
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526437904506045e-5
allele num: 65512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.669e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 2.287e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.005e0

DP
type: SiteQuality
SIO_000300: 1.770081e6

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.101A>T
hgvsp: ENSP00000454229.1:p.His34Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.101A>T
hgvsp: ENSP00000456693.1:p.His34Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.101A>T
hgvsp: ENSP00000454680.1:p.His34Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.101A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.101A>T
hgvsp: ENSP00000456414.1:p.His34Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.101A>T
hgvsp: ENSP00000456013.1:p.His34Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+208A>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.101A>T
hgvsp: ENSP00000455365.1:p.His34Leu
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1330
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2242
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1321
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37070
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11623
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1978
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526158354190831e-5
allele num: 65524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 1.769968e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.232e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.101A>G
hgvsp: ENSP00000455387.1:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+208A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.101A>G
hgvsp: ENSP00000454229.1:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.101A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+208A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+208A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+208A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+208A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.101A>G
hgvsp: ENSP00000455342.1:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+208A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.101A>G
hgvsp: ENSP00000455365.1:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.101A>G
hgvsp: ENSP00000347660.5:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.101A>G
hgvsp: ENSP00000456414.1:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.230A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.101A>G
hgvsp: ENSP00000346650.5:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.101A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.101A>G
hgvsp: ENSP00000456117.1:p.His34Arg
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 11623
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2242
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1330
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1321
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37070
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00060036021613e-4
allele num: 9994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 1.769968e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.232e1

FS
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.73C>A
hgvsp: ENSP00000456013.1:p.Leu25Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.73C>A
hgvsp: ENSP00000353073.7:p.Leu25Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.226C>A
hgvsp: ENSP00000454899.1:p.Leu76Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.73C>A
hgvsp: ENSP00000456414.1:p.Leu25Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.73C>A
hgvsp: ENSP00000454229.1:p.Leu25Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.73C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+180C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+180C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1427C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+180C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+180C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+180C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.73C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.73C>A
hgvsp: ENSP00000455365.1:p.Leu25Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.73C>A
hgvsp: ENSP00000329171.9:p.Leu25Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+180C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.356C>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35577
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2263
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1261
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1862
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1053
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 595
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.055114261273371e-5
allele num: 65464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.766638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.324e0

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.72G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.72G>T
hgvsp: ENST00000569030.1:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+179G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.72G>T
hgvsp: ENST00000354630.5:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.72G>T
hgvsp: ENST00000567804.1:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.72G>T
hgvsp: ENST00000568497.1:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+179G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+179G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.355G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+179G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.72G>T
hgvsp: ENST00000565316.1:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+179G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.72G>T
hgvsp: ENST00000357806.7:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.72G>T
hgvsp: ENST00000567495.1:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1426G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.72G>T
hgvsp: ENST00000565140.1:c.72G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12168
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2283
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2018
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35203
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6017
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529753709652746e-5
allele num: 65370
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 4.561e0

DP
type: SiteQuality
SIO_000300: 1.764143e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.092e0

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 8.75e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.71G>A
hgvsp: ENSP00000456122.1:p.Arg24Gln
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.71G>A
hgvsp: ENSP00000329171.9:p.Arg24Gln
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.224G>A
hgvsp: ENSP00000454899.1:p.Arg75Gln
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1425G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.200G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+178G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.71G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.71G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.71G>A
hgvsp: ENSP00000455387.1:p.Arg24Gln
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.71G>A
hgvsp: ENSP00000454680.1:p.Arg24Gln
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 583
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1316
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2271
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35206
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12173
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6017
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529566520847992e-5
allele num: 65378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.764399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.895e0

QD
type: SiteQuality
SIO_000300: 1.193e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.69C>T
hgvsp: ENST00000565778.1:c.69C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.69C>T
hgvsp: ENST00000565316.1:c.69C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.69C>T
hgvsp: ENST00000568497.1:c.69C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.198C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.69C>T
hgvsp: ENST00000569030.1:c.69C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+176C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.69C>T
hgvsp: ENST00000567804.1:c.69C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.69C>T
hgvsp: ENST00000569430.1:c.69C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.69C>T
hgvsp: ENST00000566057.1:c.69C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 1313
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2010
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35244
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12227
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42269
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001602564102564e-4
allele num: 9984
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65400
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.259e0

QD
type: SiteQuality
SIO_000300: 6.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.764872e6

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.187e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+174C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.196C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.67C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.67C>T
hgvsp: ENSP00000455365.1:p.Pro23Ser
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.67C>T
hgvsp: ENSP00000455387.1:p.Pro23Ser
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.67C>T
hgvsp: ENSP00000347660.5:p.Pro23Ser
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.67C>T
hgvsp: ENSP00000454680.1:p.Pro23Ser
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+174C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+174C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+174C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.350C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+174C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.67C>T
hgvsp: ENSP00000456013.1:p.Pro23Ser
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.67C>T
hgvsp: ENSP00000346650.5:p.Pro23Ser
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+174C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.67C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+174C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2179
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34981
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1344
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2257
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 584
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1204
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12171
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6022
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4404
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.649000464900046e-4
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

FS
type: SiteQuality
SIO_000300: 6.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.217e0

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.761954e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

QD
type: SiteQuality
SIO_000300: 1.041e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.62C>T
hgvsp: ENSP00000454680.1:p.Pro21Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.62C>T
hgvsp: ENSP00000455342.1:p.Pro21Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+169C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.62C>T
hgvsp: ENSP00000454229.1:p.Pro21Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.62C>T
hgvsp: ENSP00000346650.5:p.Pro21Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.62C>T
hgvsp: ENSP00000456013.1:p.Pro21Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+169C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.62C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+169C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.62C>T
hgvsp: ENSP00000455365.1:p.Pro21Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1416C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.62C>T
hgvsp: ENSP00000350457.7:p.Pro21Leu
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+169C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+169C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+169C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.293C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+169C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2277
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12186
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1406
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2320
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34719
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6023
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759324419422942e-4
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532567049808429e-5
allele num: 65250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.760439e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.62C>G
hgvsp: ENSP00000353116.2:p.Pro21Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.62C>G
hgvsp: ENSP00000456693.1:p.Pro21Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.62C>G
hgvsp: ENSP00000329171.9:p.Pro21Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.62C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.62C>G
hgvsp: ENSP00000455365.1:p.Pro21Arg
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+169C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.191C>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 1406
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 34719
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2320
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12186
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6023
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759324419422942e-4
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.760439e6

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.56C>T
hgvsp: ENSP00000456414.1:p.Thr19Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.56C>T
hgvsp: ENSP00000455387.1:p.Thr19Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.56C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+163C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+163C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.56C>T
hgvsp: ENSP00000456693.1:p.Thr19Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+163C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.56C>T
hgvsp: ENSP00000346650.5:p.Thr19Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.56C>T
hgvsp: ENSP00000347660.5:p.Thr19Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+163C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+163C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+163C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+163C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.56C>T
hgvsp: ENSP00000456013.1:p.Thr19Ile
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.287C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.56C>T
hgvsp: ENSP00000454229.1:p.Thr19Ile
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2232
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34302
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2679
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12135
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1484
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4298
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068425897514575e-5
allele num: 65180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.753969e6

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

FS
type: SiteQuality
SIO_000300: 3.687e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.49G>A
hgvsp: ENSP00000455387.1:p.Glu17Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.49G>A
hgvsp: ENSP00000329171.9:p.Glu17Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.49G>A
hgvsp: ENSP00000456013.1:p.Glu17Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.49G>A
hgvsp: ENSP00000455365.1:p.Glu17Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.49G>A
hgvsp: ENSP00000456122.1:p.Glu17Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.49G>A
hgvsp: ENSP00000346650.5:p.Glu17Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454899
ensembl transcript: ENST00000568443
gene symbol: CLN3
hgvsc: ENST00000568443.1:c.202G>A
hgvsp: ENSP00000454899.1:p.Glu68Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+156G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
clinical significance: likely_pathogenic
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+156G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000563874
gene symbol: CLN3
hgvsc: ENST00000563874.1:n.1403G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+156G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.49G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+156G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+156G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.49G>A
hgvsp: ENSP00000456117.1:p.Glu17Lys
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+156G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.49G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+156G>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
clinical significance: likely_pathogenic
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+156G>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 32867
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1779
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12112
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3482
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1641
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65004
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.827683615819209e-5
allele num: 11328
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.742212e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -5.306999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.47-3C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.47-3C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.47-3C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-3C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.275C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.47-3C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-3C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.47-3C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+151C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+151C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 4459
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2640
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1783
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31062
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11875
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2289
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37313
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
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: 9896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.628629617058043e-5
allele num: 64814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.78e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 1.726025e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.47-6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.330-6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.272T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+148T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.47-6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-6T>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+148T>C
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 2242
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3602
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29501
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11542
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5319
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1890
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545929567448907e-5
allele num: 64686
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -6.402e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.408e1

FS
type: SiteQuality
SIO_000300: 1.594e0

DP
type: SiteQuality
SIO_000300: 1.709053e6

MQRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+147C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+147C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+147C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000346650
ensembl transcript: ENST00000354630
gene symbol: CLN3
hgvsc: ENST00000354630.5:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+147C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+147C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+147C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.271C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.47-7C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 5304
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29588
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3585
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11517
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2213
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1095
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546312045770837e-5
allele num: 64670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 1.078e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

DP
type: SiteQuality
SIO_000300: 1.708666e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+145C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+145C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.176-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+145C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+145C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-9C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.330-9C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2126
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1929
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11361
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29374
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3843
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5481
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 2
allele frequency: 2.027163997567403e-4
allele num: 9866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547556408431087e-5
allele num: 64618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

QD
type: SiteQuality
SIO_000300: 6.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.041e0

FS
type: SiteQuality
SIO_000300: 1.842e0

DP
type: SiteQuality
SIO_000300: 1.703493e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.176-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+143C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+143C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+143C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+143C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+143C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.47-11C>A
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.47-11C>A
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 29052
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2091
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11296
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1962
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5663
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4046
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64538
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.848656642839536e-4
allele num: 16228
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.35e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.767e0

DP
type: SiteQuality
SIO_000300: 1.699796e6

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 3.749e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+141C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000561689
gene symbol: CLN3
hgvsc: ENST00000561689.1:n.46+141C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+141C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+141C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+141C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+141C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-13C>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.330-13C>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 11064
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5970
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4515
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1991
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28541
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34197
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548706829797119e-5
allele num: 64570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.016e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.692288e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+128G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+128G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.176-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+128G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-26G>T
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+128G>T
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9520
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1844
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7868
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24067
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8465
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2283
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5949
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.188118811881188e-5
allele num: 16160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64018
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.895e0

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

FS
type: SiteQuality
SIO_000300: 4.545e0

DP
type: SiteQuality
SIO_000300: 1.641776e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.47-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.47-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+119T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.47-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.176-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+119T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+119T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.243T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+119T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-35T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+119T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+119T>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 9218
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9613
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8439
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2377
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1747
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22613
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567889620570712e-5
allele num: 63780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.27e0

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.99e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.627533e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+117A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+117A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+117A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+117A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+117A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.47-37A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+117A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.47-37A>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9817
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 542
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2416
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1746
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8505
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22377
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6023
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 24733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4298
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 6.161429451632779e-4
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 1.625023e6

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000564574
gene symbol: CLN3
hgvsc: ENST00000564574.1:n.173+115A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350523
ensembl transcript: ENST00000357857
gene symbol: CLN3
hgvsc: ENST00000357857.9:c.-38+115A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+115A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+115A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.330-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353073
ensembl transcript: ENST00000359984
gene symbol: CLN3
hgvsc: ENST00000359984.7:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000349586
ensembl transcript: ENST00000357076
gene symbol: CLN3
hgvsc: ENST00000357076.5:c.47-39A>C
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+115A>C
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 240
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10163
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22071
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2445
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1718
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9047
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8552
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6017
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63778
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.194251734390486e-5
allele num: 16144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.078e1

VQSLOD
type: SiteQuality
SIO_000300: -1.619e0

DP
type: SiteQuality
SIO_000300: 1.621541e6

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+112_-38+113dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.330-42_330-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+112_-96+113dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000353116
ensembl transcript: ENST00000360019
gene symbol: CLN3
hgvsc: ENST00000360019.2:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+112_-96+113dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+112_113+113dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+112_-38+113dupCT
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-42_47-41dupCT
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 540
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9036
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10208
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8561
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21967
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2452
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1771
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 3

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.689135891000359e-4
allele num: 11156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 2.251e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

DP
type: SiteQuality
SIO_000300: 1.621668e6

MQ
type: SiteQuality
SIO_000300: 6.047e1

QD
type: SiteQuality
SIO_000300: 1.353e1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+113T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566083
gene symbol: CLN3
hgvsc: ENST00000566083.1:n.237T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+113T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565047
gene symbol: CLN3
hgvsc: ENST00000565047.1:n.113+113T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454229
ensembl transcript: ENST00000569430
gene symbol: CLN3
hgvsc: ENST00000569430.1:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.330-41T>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000454680
ensembl transcript: ENST00000569030
gene symbol: CLN3
hgvsc: ENST00000569030.1:c.47-41T>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 1761
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9058
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10099
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8573
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2469
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22029
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569612305760477e-5
allele num: 63710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.621894e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455387
ensembl transcript: ENST00000567963
gene symbol: CLN3
hgvsc: ENST00000567963.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568452
gene symbol: CLN3
hgvsc: ENST00000568452.1:n.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456122
ensembl transcript: ENST00000565688
gene symbol: CLN3
hgvsc: ENST00000565688.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456117
ensembl transcript: ENST00000565316
gene symbol: CLN3
hgvsc: ENST00000565316.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000566824
gene symbol: CLN3
hgvsc: ENST00000566824.1:n.176-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000261832
ensembl protein: ENSP00000454253
ensembl transcript: ENST00000568224
gene symbol: CLN3
hgvsc: ENST00000568224.1:c.-38+110A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455603
ensembl transcript: ENST00000568558
gene symbol: CLN3
hgvsc: ENST00000568558.1:c.-38+110A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-44A>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000565236
gene symbol: CLN3
hgvsc: ENST00000565236.1:n.330-44A>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 1747
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8656
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 248
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8891
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10579
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2498
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21602
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22415
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572079861656972e-5
allele num: 63610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 6.532e0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.61716e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000347660
ensembl transcript: ENST00000355477
gene symbol: CLN3
hgvsc: ENST00000355477.5:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000350457
ensembl transcript: ENST00000357806
gene symbol: CLN3
hgvsc: ENST00000357806.7:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455342
ensembl transcript: ENST00000565140
gene symbol: CLN3
hgvsc: ENST00000565140.1:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000458015
ensembl transcript: ENST00000565778
gene symbol: CLN3
hgvsc: ENST00000565778.1:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456013
ensembl transcript: ENST00000567495
gene symbol: CLN3
hgvsc: ENST00000567495.1:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455365
ensembl transcript: ENST00000567804
gene symbol: CLN3
hgvsc: ENST00000567804.1:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456414
ensembl transcript: ENST00000568497
gene symbol: CLN3
hgvsc: ENST00000568497.1:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000457615
ensembl transcript: ENST00000561505
gene symbol: CLN3
hgvsc: ENST00000561505.1:c.-96+94C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000455549
ensembl transcript: ENST00000568422
gene symbol: CLN3
hgvsc: ENST00000568422.1:c.-96+94C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000443221
ensembl transcript: ENST00000535392
gene symbol: CLN3
hgvsc: ENST00000535392.1:c.-38+94C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568076
gene symbol: CLN3
hgvsc: ENST00000568076.1:n.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl transcript: ENST00000568472
gene symbol: CLN3
hgvsc: ENST00000568472.1:n.60+94C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000329171
ensembl transcript: ENST00000333496
gene symbol: CLN3
hgvsc: ENST00000333496.9:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000456693
ensembl transcript: ENST00000566057
gene symbol: CLN3
hgvsc: ENST00000566057.1:c.47-60C>G
variant of: http://identifiers.org/hgnc/2074

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000188603
ensembl protein: ENSP00000379014
ensembl transcript: ENST00000395653
gene symbol: CLN3
hgvsc: ENST00000395653.4:c.-96+94C>G
variant of: http://identifiers.org/hgnc/2074

GenotypeDepth
all individuals: 462
bin: 8.75e1
variant carriers: 7

GenotypeDepth
all individuals: 448
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 9554
bin: 2.75e1
variant carriers: 337

GenotypeDepth
all individuals: 353
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2406
bin: 9.75e1
variant carriers: 28

GenotypeDepth
all individuals: 175
bin: 5.75e1
variant carriers: 7

GenotypeDepth
all individuals: 21475
bin: 2.25e1
variant carriers: 430

GenotypeDepth
all individuals: 255
bin: 6.25e1
variant carriers: 9