11-57571234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571234
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571234
    reference: chr 11
allele count: 1
allele frequency: 8.675133597057395e-6
allele num: 115272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1400T>C
  hgvsp: ENSP00000433334.1:p.Ile467Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1562T>C
  hgvsp: ENSP00000413586.2:p.Ile521Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1259T>C
  hgvsp: ENSP00000432075.1:p.Ile420Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.593T>C
  hgvsp: ENSP00000437051.1:p.Ile198Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1259T>C
  hgvsp: ENSP00000437327.1:p.Ile420Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1259T>C
  hgvsp: ENSP00000434949.1:p.Ile420Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1400T>C
  hgvsp: ENSP00000432243.1:p.Ile467Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1400T>C
  hgvsp: ENSP00000436323.1:p.Ile467Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1259T>C
  hgvsp: ENSP00000409930.2:p.Ile420Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1400T>C
  hgvsp: ENSP00000433276.1:p.Ile467Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1259T>C
  hgvsp: ENSP00000437156.1:p.Ile420Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1562T>C
  hgvsp: ENSP00000354907.4:p.Ile521Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1562T>C
  hgvsp: ENSP00000354823.4:p.Ile521Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1400T>C
  hgvsp: ENSP00000436744.1:p.Ile467Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1259T>C
  hgvsp: ENSP00000435266.1:p.Ile420Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1400T>C
  hgvsp: ENSP00000435379.1:p.Ile467Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1400T>C
  hgvsp: ENSP00000435494.1:p.Ile467Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1562T>C
  hgvsp: ENSP00000354785.6:p.Ile521Thr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.593T>C
  hgvsp: ENSP00000434672.1:p.Ile198Thr
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile521Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

11-57571243-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571243
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571243
    reference: chr 11
allele count: 5
allele frequency: 4.390895040044962e-5
allele num: 113872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1571A>T
  hgvsp: ENSP00000413586.2:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1571A>T
  hgvsp: ENSP00000351527.6:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1571A>T
  hgvsp: ENSP00000381996.4:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.602A>T
  hgvsp: ENSP00000434900.1:p.Glu201Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1571A>T
  hgvsp: ENSP00000353902.6:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.602A>T
  hgvsp: ENSP00000433158.1:p.Glu201Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1268A>T
  hgvsp: ENSP00000435266.1:p.Glu423Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1571A>T
  hgvsp: ENSP00000354823.4:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1571A>T
  hgvsp: ENSP00000354785.6:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1571A>T
  hgvsp: ENSP00000432041.1:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1409A>T
  hgvsp: ENSP00000435789.1:p.Glu470Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1409A>T
  hgvsp: ENSP00000433334.1:p.Glu470Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1409A>T
  hgvsp: ENSP00000433276.1:p.Glu470Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1268A>T
  hgvsp: ENSP00000432075.1:p.Glu423Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1409A>T
  hgvsp: ENSP00000435494.1:p.Glu470Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1409A>T
  hgvsp: ENSP00000435379.1:p.Glu470Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.602A>T
  hgvsp: ENSP00000434672.1:p.Glu201Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1268A>T
  hgvsp: ENSP00000434017.1:p.Glu423Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1571A>T
  hgvsp: ENSP00000382004.4:p.Glu524Val
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu524Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

11-57571246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571246
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571246
    reference: chr 11
allele count: 1
allele frequency: 8.826436943934473e-6
allele num: 113296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1412C>T
  hgvsp: ENSP00000436744.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1574C>T
  hgvsp: ENSP00000382004.4:p.Ser525Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1574C>T
  hgvsp: ENSP00000436543.1:p.Ser525Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.605C>T
  hgvsp: ENSP00000434672.1:p.Ser202Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1574C>T
  hgvsp: ENSP00000432041.1:p.Ser525Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1271C>T
  hgvsp: ENSP00000432075.1:p.Ser424Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1271C>T
  hgvsp: ENSP00000435266.1:p.Ser424Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1412C>T
  hgvsp: ENSP00000433334.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1574C>T
  hgvsp: ENSP00000381996.4:p.Ser525Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1574C>T
  hgvsp: ENSP00000354785.6:p.Ser525Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1412C>T
  hgvsp: ENSP00000435789.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1412C>T
  hgvsp: ENSP00000435379.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1412C>T
  hgvsp: ENSP00000433276.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1271C>T
  hgvsp: ENSP00000434949.1:p.Ser424Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1412C>T
  hgvsp: ENSP00000435494.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.605C>T
  hgvsp: ENSP00000437051.1:p.Ser202Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1574C>T
  hgvsp: ENSP00000413586.2:p.Ser525Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1574C>T
  hgvsp: ENSP00000434808.1:p.Ser525Leu
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1412C>T
  hgvsp: ENSP00000436323.1:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser525Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

11-57571247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571247
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571247
    reference: chr 11
allele count: 9
allele frequency: 7.948423562660072e-5
allele num: 113230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1575G>A
  hgvsp: ENST00000428599.2:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.606G>A
  hgvsp: ENST00000533667.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1575G>A
  hgvsp: ENST00000399050.4:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1413G>A
  hgvsp: ENST00000532844.1:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1272G>A
  hgvsp: ENST00000532463.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1272G>A
  hgvsp: ENST00000426142.2:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1575G>A
  hgvsp: ENST00000529919.1:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1413G>A
  hgvsp: ENST00000529873.1:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1413G>A
  hgvsp: ENST00000532649.1:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1413G>A
  hgvsp: ENST00000526357.1:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1575G>A
  hgvsp: ENST00000360682.6:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1575G>A
  hgvsp: ENST00000526938.1:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1272G>A
  hgvsp: ENST00000528232.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1575G>A
  hgvsp: ENST00000524630.1:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1272G>A
  hgvsp: ENST00000415361.2:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1413G>A
  hgvsp: ENST00000529526.1:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1575G>A
  hgvsp: ENST00000399039.4:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1272G>A
  hgvsp: ENST00000532787.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.606G>A
  hgvsp: ENST00000525902.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser525Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

11-57571247-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571247
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571247
    reference: chr 11
allele count: 2
allele frequency: 1.766316347257794e-5
allele num: 113230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.606G>T
  hgvsp: ENST00000533667.1:c.606G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.606G>T
  hgvsp: ENST00000527467.1:c.606G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1575G>T
  hgvsp: ENST00000361796.4:c.1575G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1413G>T
  hgvsp: ENST00000532844.1:c.1413G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1272G>T
  hgvsp: ENST00000528232.1:c.1272G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1575G>T
  hgvsp: ENST00000428599.2:c.1575G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1575G>T
  hgvsp: ENST00000526938.1:c.1575G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198561
  ensembl transcript: ENST00000527599
  gene symbol: CTNND1
  hgvsc: ENST00000527599.1:n.357G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1575G>T
  hgvsp: ENST00000399039.4:c.1575G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1413G>T
  hgvsp: ENST00000534579.1:c.1413G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1413G>T
  hgvsp: ENST00000528621.1:c.1413G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1413G>T
  hgvsp: ENST00000529873.1:c.1413G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1575G>T
  hgvsp: ENST00000529919.1:c.1575G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1575G>T
  hgvsp: ENST00000399050.4:c.1575G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1272G>T
  hgvsp: ENST00000532245.1:c.1272G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.606G>T
  hgvsp: ENST00000525902.1:c.606G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1413G>T
  hgvsp: ENST00000526357.1:c.1413G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1272G>T
  hgvsp: ENST00000532787.1:c.1272G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1413G>T
  hgvsp: ENST00000529526.1:c.1413G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser525Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS

11-57571253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571253
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571253
    reference: chr 11
allele count: 1
allele frequency: 8.908209806157355e-6
allele num: 112256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1278C>T
  hgvsp: ENST00000530094.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1278C>T
  hgvsp: ENST00000532463.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1581C>T
  hgvsp: ENST00000360682.6:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1581C>T
  hgvsp: ENST00000428599.2:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1581C>T
  hgvsp: ENST00000529919.1:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1581C>T
  hgvsp: ENST00000526938.1:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1581C>T
  hgvsp: ENST00000399039.4:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.612C>T
  hgvsp: ENST00000531014.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.612C>T
  hgvsp: ENST00000533667.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1278C>T
  hgvsp: ENST00000426142.2:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.612C>T
  hgvsp: ENST00000527467.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1278C>T
  hgvsp: ENST00000532787.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1419C>T
  hgvsp: ENST00000534579.1:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1278C>T
  hgvsp: ENST00000415361.2:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1581C>T
  hgvsp: ENST00000524630.1:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1278C>T
  hgvsp: ENST00000529986.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1419C>T
  hgvsp: ENST00000529873.1:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1419C>T
  hgvsp: ENST00000529526.1:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1419C>T
  hgvsp: ENST00000532649.1:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu527Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

11-57571282-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571282
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571282
    reference: chr 11
allele count: 1
allele frequency: 9.68541763520843e-6
allele num: 103248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.635+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1301+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.635+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1604+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1442+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1604+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1604+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1301+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1442+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.635+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1442+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1604+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1301+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.635+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.635+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1442+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1301+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1442+6A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1442+6A>G
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1604+6A>G
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

11-57571287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571287
    reference: chr 11
allele count: 1
allele frequency: 9.874202658135355e-6
allele num: 101274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1301+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.635+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1604+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.635+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1301+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1301+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1604+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.635+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1301+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198561
  ensembl transcript: ENST00000527599
  gene symbol: CTNND1
  hgvsc: ENST00000527599.1:n.397G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1604+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1604+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1604+11G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1442+11G>A
  variant of: http://identifiers.org/hgnc/2515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-57571293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571293
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571293
    reference: chr 11
allele count: 24
allele frequency: 2.423948612289419e-4
allele num: 99012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1442+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1442+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1301+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1442+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1301+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1301+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1301+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.635+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198561
  ensembl transcript: ENST00000527599
  gene symbol: CTNND1
  hgvsc: ENST00000527599.1:n.403T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1442+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1301+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1442+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1604+17T>C
  variant of: http://identifiers.org/hgnc/2515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

11-57571297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571297
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571297
    reference: chr 11
allele count: 1
allele frequency: 1.02324819908317e-5
allele num: 97728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198561
  ensembl transcript: ENST00000527599
  gene symbol: CTNND1
  hgvsc: ENST00000527599.1:n.407A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1301+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1442+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1442+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1301+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1301+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1604+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1301+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1604+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1604+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1604+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1604+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.635+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1301+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1442+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1301+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1442+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1442+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1301+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.635+21A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1604+21A>G
  variant of: http://identifiers.org/hgnc/2515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

11-57571302-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571302
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571302
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 95434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1604+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1604+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1604+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1301+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1604+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1301+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1301+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1301+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1442+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1442+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1301+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1442+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198561
  ensembl transcript: ENST00000527599
  gene symbol: CTNND1
  hgvsc: ENST00000527599.1:n.412G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1301+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1442+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1604+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1442+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.635+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1604+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.635+26G>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.635+26G>T
  variant of: http://identifiers.org/hgnc/2515
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-57571325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571325
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571325
    reference: chr 11
allele count: 1
allele frequency: 2.127569039615336e-5
allele num: 47002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1301+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198561
  ensembl transcript: ENST00000527599
  gene symbol: CTNND1
  hgvsc: ENST00000527599.1:n.435C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1604+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1442+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1604+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1301+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1604+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1604+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1442+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1301+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1442+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1442+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1604+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.635+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.635+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.635+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1442+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.635+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1442+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1604+49C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1301+49C>T
  variant of: http://identifiers.org/hgnc/2515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-57571326-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57571326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57571326
    reference: chr 11
allele count: 1
allele frequency: 2.107659233655103e-5
allele num: 47446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1301+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.635+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1604+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1442+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1442+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1301+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.635+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198561
  ensembl transcript: ENST00000527599
  gene symbol: CTNND1
  hgvsc: ENST00000527599.1:n.436T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1604+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1301+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1442+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1442+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1301+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1604+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1604+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1604+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.635+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1604+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1442+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1604+50T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1301+50T>C
  variant of: http://identifiers.org/hgnc/2515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

11-57572085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572085
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572085
    reference: chr 11
allele count: 1
allele frequency: 1.016756141207093e-5
allele num: 98352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1443-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1443-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1443-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.636-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.636-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1302-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1302-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1302-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1443-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.636-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1443-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1605-50G>A
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

11-57572095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572095
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572095
    reference: chr 11
allele count: 1
allele frequency: 1.005308026379283e-5
allele num: 99472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1302-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1443-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1443-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.636-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1302-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1302-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1443-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1302-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1302-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1443-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1443-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.636-40C>T
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1605-40C>T
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

11-57572101-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572101
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572101
    reference: chr 11
allele count: 1
allele frequency: 9.932853907584728e-6
allele num: 100676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1443-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1605-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1443-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1443-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1443-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1605-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1443-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1302-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1605-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.636-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.636-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1605-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1605-34T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1443-34T>C
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

11-57572145-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572145
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572145
    reference: chr 11
allele count: 1
allele frequency: 8.519629225736096e-6
allele num: 117376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1615T>C
  hgvsp: ENSP00000434808.1:p.Ser539Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1312T>C
  hgvsp: ENSP00000435266.1:p.Ser438Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1453T>C
  hgvsp: ENSP00000436744.1:p.Ser485Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1312T>C
  hgvsp: ENSP00000434949.1:p.Ser438Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.646T>C
  hgvsp: ENSP00000434672.1:p.Ser216Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1615T>C
  hgvsp: ENSP00000354907.4:p.Ser539Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.646T>C
  hgvsp: ENSP00000433158.1:p.Ser216Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1453T>C
  hgvsp: ENSP00000435379.1:p.Ser485Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.646T>C
  hgvsp: ENSP00000432623.1:p.Ser216Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1615T>C
  hgvsp: ENSP00000351527.6:p.Ser539Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.646T>C
  hgvsp: ENSP00000434900.1:p.Ser216Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.646T>C
  hgvsp: ENSP00000437051.1:p.Ser216Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1615T>C
  hgvsp: ENSP00000413586.2:p.Ser539Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1615T>C
  hgvsp: ENSP00000436543.1:p.Ser539Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1615T>C
  hgvsp: ENSP00000354785.6:p.Ser539Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1453T>C
  hgvsp: ENSP00000435789.1:p.Ser485Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1453T>C
  hgvsp: ENSP00000432243.1:p.Ser485Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1453T>C
  hgvsp: ENSP00000435494.1:p.Ser485Pro
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1453T>C
  hgvsp: ENSP00000433276.1:p.Ser485Pro
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser539Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

11-57572166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572166
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572166
    reference: chr 11
allele count: 1
allele frequency: 8.395318770253707e-6
allele num: 119114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1333C>T
  hgvsp: ENSP00000434949.1:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1636C>T
  hgvsp: ENSP00000351527.6:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1333C>T
  hgvsp: ENSP00000434017.1:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1333C>T
  hgvsp: ENSP00000432075.1:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1474C>T
  hgvsp: ENSP00000435379.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.667C>T
  hgvsp: ENSP00000434672.1:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1474C>T
  hgvsp: ENSP00000433276.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1636C>T
  hgvsp: ENSP00000413586.2:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1474C>T
  hgvsp: ENSP00000433334.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1636C>T
  hgvsp: ENSP00000382004.4:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1636C>T
  hgvsp: ENSP00000353902.6:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.667C>T
  hgvsp: ENSP00000432623.1:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1636C>T
  hgvsp: ENSP00000354907.4:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1474C>T
  hgvsp: ENSP00000435494.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.667C>T
  hgvsp: ENSP00000433158.1:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1636C>T
  hgvsp: ENSP00000434808.1:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1474C>T
  hgvsp: ENSP00000432243.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.667C>T
  hgvsp: ENSP00000437051.1:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1333C>T
  hgvsp: ENSP00000403518.2:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg546Trp
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

11-57572167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572167
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572167
    reference: chr 11
allele count: 3
allele frequency: 2.518172813806302e-5
allele num: 119134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1475G>A
  hgvsp: ENSP00000435379.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1475G>A
  hgvsp: ENSP00000433334.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1637G>A
  hgvsp: ENSP00000434808.1:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1475G>A
  hgvsp: ENSP00000435789.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1475G>A
  hgvsp: ENSP00000435494.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1637G>A
  hgvsp: ENSP00000381996.4:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1637G>A
  hgvsp: ENSP00000354823.4:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1475G>A
  hgvsp: ENSP00000433276.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1637G>A
  hgvsp: ENSP00000353902.6:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.668G>A
  hgvsp: ENSP00000437051.1:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1637G>A
  hgvsp: ENSP00000354907.4:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1334G>A
  hgvsp: ENSP00000434017.1:p.Arg445Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.668G>A
  hgvsp: ENSP00000434672.1:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1334G>A
  hgvsp: ENSP00000437156.1:p.Arg445Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1334G>A
  hgvsp: ENSP00000434949.1:p.Arg445Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1637G>A
  hgvsp: ENSP00000413586.2:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1334G>A
  hgvsp: ENSP00000435266.1:p.Arg445Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.668G>A
  hgvsp: ENSP00000434900.1:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1334G>A
  hgvsp: ENSP00000432075.1:p.Arg445Gln
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg546Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

11-57572171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572171
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572171
    reference: chr 11
allele count: 2
allele frequency: 1.676024469957262e-5
allele num: 119330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1479A>G
  hgvsp: ENST00000529873.1:c.1479A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.672A>G
  hgvsp: ENST00000531014.1:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1479A>G
  hgvsp: ENST00000532844.1:c.1479A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.672A>G
  hgvsp: ENST00000533667.1:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1641A>G
  hgvsp: ENST00000526938.1:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1641A>G
  hgvsp: ENST00000361332.4:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1338A>G
  hgvsp: ENST00000532463.1:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1641A>G
  hgvsp: ENST00000524630.1:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1479A>G
  hgvsp: ENST00000526357.1:c.1479A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1338A>G
  hgvsp: ENST00000532787.1:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1641A>G
  hgvsp: ENST00000428599.2:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1641A>G
  hgvsp: ENST00000399039.4:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1338A>G
  hgvsp: ENST00000529986.1:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.672A>G
  hgvsp: ENST00000525902.1:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1338A>G
  hgvsp: ENST00000415361.2:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1641A>G
  hgvsp: ENST00000399050.4:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1641A>G
  hgvsp: ENST00000529919.1:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1641A>G
  hgvsp: ENST00000361796.4:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1338A>G
  hgvsp: ENST00000426142.2:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys547Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

11-57572175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572175
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572175
    reference: chr 11
allele count: 1
allele frequency: 8.374227477515199e-6
allele num: 119414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1483C>T
  hgvsp: ENSP00000433334.1:p.Arg495Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1342C>T
  hgvsp: ENSP00000403518.2:p.Arg448Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1645C>T
  hgvsp: ENSP00000353902.6:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1645C>T
  hgvsp: ENSP00000354785.6:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1645C>T
  hgvsp: ENSP00000436543.1:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.676C>T
  hgvsp: ENSP00000434672.1:p.Arg226Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1645C>T
  hgvsp: ENSP00000413586.2:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.676C>T
  hgvsp: ENSP00000432623.1:p.Arg226Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.676C>T
  hgvsp: ENSP00000437051.1:p.Arg226Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.676C>T
  hgvsp: ENSP00000434900.1:p.Arg226Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1483C>T
  hgvsp: ENSP00000436744.1:p.Arg495Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1342C>T
  hgvsp: ENSP00000434949.1:p.Arg448Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1342C>T
  hgvsp: ENSP00000432075.1:p.Arg448Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1645C>T
  hgvsp: ENSP00000382004.4:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1645C>T
  hgvsp: ENSP00000432041.1:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1483C>T
  hgvsp: ENSP00000435494.1:p.Arg495Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1483C>T
  hgvsp: ENSP00000436323.1:p.Arg495Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1483C>T
  hgvsp: ENSP00000435379.1:p.Arg495Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1645C>T
  hgvsp: ENSP00000434808.1:p.Arg549Trp
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg549Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

11-57572176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572176
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572176
    reference: chr 11
allele count: 2
allele frequency: 1.674508950250339e-5
allele num: 119438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1646G>A
  hgvsp: ENSP00000351527.6:p.Arg549Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1484G>A
  hgvsp: ENSP00000436744.1:p.Arg495Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1343G>A
  hgvsp: ENSP00000435266.1:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1646G>A
  hgvsp: ENSP00000434808.1:p.Arg549Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1343G>A
  hgvsp: ENSP00000437327.1:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1646G>A
  hgvsp: ENSP00000354823.4:p.Arg549Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1343G>A
  hgvsp: ENSP00000434949.1:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.677G>A
  hgvsp: ENSP00000434672.1:p.Arg226Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.677G>A
  hgvsp: ENSP00000434900.1:p.Arg226Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1343G>A
  hgvsp: ENSP00000434017.1:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1343G>A
  hgvsp: ENSP00000403518.2:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1343G>A
  hgvsp: ENSP00000432075.1:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1484G>A
  hgvsp: ENSP00000432243.1:p.Arg495Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1646G>A
  hgvsp: ENSP00000413586.2:p.Arg549Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1484G>A
  hgvsp: ENSP00000435379.1:p.Arg495Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.677G>A
  hgvsp: ENSP00000433158.1:p.Arg226Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1646G>A
  hgvsp: ENSP00000381996.4:p.Arg549Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1484G>A
  hgvsp: ENSP00000433276.1:p.Arg495Gln
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1484G>A
  hgvsp: ENSP00000435494.1:p.Arg495Gln
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg549Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-57572184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572184
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572184
    reference: chr 11
allele count: 1
allele frequency: 8.363161944267889e-6
allele num: 119572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1492G>A
  hgvsp: ENSP00000433334.1:p.Asp498Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1492G>A
  hgvsp: ENSP00000435494.1:p.Asp498Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1351G>A
  hgvsp: ENSP00000437156.1:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1654G>A
  hgvsp: ENSP00000434808.1:p.Asp552Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1351G>A
  hgvsp: ENSP00000403518.2:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.685G>A
  hgvsp: ENSP00000432623.1:p.Asp229Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.685G>A
  hgvsp: ENSP00000437051.1:p.Asp229Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1654G>A
  hgvsp: ENSP00000413586.2:p.Asp552Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1654G>A
  hgvsp: ENSP00000351527.6:p.Asp552Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.685G>A
  hgvsp: ENSP00000434672.1:p.Asp229Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1492G>A
  hgvsp: ENSP00000435379.1:p.Asp498Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1654G>A
  hgvsp: ENSP00000382004.4:p.Asp552Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1351G>A
  hgvsp: ENSP00000432075.1:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1492G>A
  hgvsp: ENSP00000432243.1:p.Asp498Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1351G>A
  hgvsp: ENSP00000435266.1:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1351G>A
  hgvsp: ENSP00000434949.1:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1492G>A
  hgvsp: ENSP00000433276.1:p.Asp498Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1654G>A
  hgvsp: ENSP00000381996.4:p.Asp552Asn
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1654G>A
  hgvsp: ENSP00000436543.1:p.Asp552Asn
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp552Asn
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-57572187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572187
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572187
    reference: chr 11
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1657G>A
  hgvsp: ENSP00000413586.2:p.Gly553Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.688G>A
  hgvsp: ENSP00000433158.1:p.Gly230Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1495G>A
  hgvsp: ENSP00000432243.1:p.Gly499Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1354G>A
  hgvsp: ENSP00000432075.1:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.688G>A
  hgvsp: ENSP00000432623.1:p.Gly230Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1354G>A
  hgvsp: ENSP00000403518.2:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1354G>A
  hgvsp: ENSP00000435266.1:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1354G>A
  hgvsp: ENSP00000434949.1:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1354G>A
  hgvsp: ENSP00000437156.1:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1495G>A
  hgvsp: ENSP00000436323.1:p.Gly499Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1495G>A
  hgvsp: ENSP00000433276.1:p.Gly499Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1495G>A
  hgvsp: ENSP00000433334.1:p.Gly499Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1495G>A
  hgvsp: ENSP00000435789.1:p.Gly499Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1495G>A
  hgvsp: ENSP00000435379.1:p.Gly499Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1354G>A
  hgvsp: ENSP00000409930.2:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1657G>A
  hgvsp: ENSP00000382004.4:p.Gly553Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1657G>A
  hgvsp: ENSP00000434808.1:p.Gly553Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1657G>A
  hgvsp: ENSP00000381996.4:p.Gly553Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1354G>A
  hgvsp: ENSP00000437327.1:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly553Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-57572202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572202
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572202
    reference: chr 11
allele count: 6
allele frequency: 5.035246727089627e-5
allele num: 119160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1510C>T
  hgvsp: ENSP00000433276.1:p.Leu504Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1369C>T
  hgvsp: ENSP00000434017.1:p.Leu457Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1510C>T
  hgvsp: ENSP00000435379.1:p.Leu504Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1510C>T
  hgvsp: ENSP00000435789.1:p.Leu504Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1672C>T
  hgvsp: ENSP00000354785.6:p.Leu558Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1369C>T
  hgvsp: ENSP00000403518.2:p.Leu457Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.703C>T
  hgvsp: ENSP00000432623.1:p.Leu235Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1672C>T
  hgvsp: ENSP00000354907.4:p.Leu558Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1510C>T
  hgvsp: ENSP00000433334.1:p.Leu504Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1672C>T
  hgvsp: ENSP00000413586.2:p.Leu558Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1369C>T
  hgvsp: ENSP00000437327.1:p.Leu457Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.703C>T
  hgvsp: ENSP00000437051.1:p.Leu235Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1510C>T
  hgvsp: ENSP00000435494.1:p.Leu504Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1369C>T
  hgvsp: ENSP00000437156.1:p.Leu457Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1369C>T
  hgvsp: ENSP00000434949.1:p.Leu457Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.703C>T
  hgvsp: ENSP00000434900.1:p.Leu235Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.703C>T
  hgvsp: ENSP00000434672.1:p.Leu235Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1672C>T
  hgvsp: ENSP00000351527.6:p.Leu558Phe
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1672C>T
  hgvsp: ENSP00000434808.1:p.Leu558Phe
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu558Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

11-57572205-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572205
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572205
    reference: chr 11
allele count: 4
allele frequency: 3.359537727608681e-5
allele num: 119064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1513A>G
  hgvsp: ENSP00000436744.1:p.Ile505Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1372A>G
  hgvsp: ENSP00000437327.1:p.Ile458Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1513A>G
  hgvsp: ENSP00000433334.1:p.Ile505Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1372A>G
  hgvsp: ENSP00000403518.2:p.Ile458Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1513A>G
  hgvsp: ENSP00000436323.1:p.Ile505Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1372A>G
  hgvsp: ENSP00000437156.1:p.Ile458Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1675A>G
  hgvsp: ENSP00000351527.6:p.Ile559Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1675A>G
  hgvsp: ENSP00000353902.6:p.Ile559Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1513A>G
  hgvsp: ENSP00000435494.1:p.Ile505Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1513A>G
  hgvsp: ENSP00000432243.1:p.Ile505Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1675A>G
  hgvsp: ENSP00000436543.1:p.Ile559Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.706A>G
  hgvsp: ENSP00000437051.1:p.Ile236Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.706A>G
  hgvsp: ENSP00000433158.1:p.Ile236Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1372A>G
  hgvsp: ENSP00000434949.1:p.Ile458Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1675A>G
  hgvsp: ENSP00000413586.2:p.Ile559Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.706A>G
  hgvsp: ENSP00000434672.1:p.Ile236Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1675A>G
  hgvsp: ENSP00000381996.4:p.Ile559Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1372A>G
  hgvsp: ENSP00000432075.1:p.Ile458Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1675A>G
  hgvsp: ENSP00000434808.1:p.Ile559Val
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile559Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

11-57572244-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572244
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572244
    reference: chr 11
allele count: 2
allele frequency: 1.817091563243872e-5
allele num: 110066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1552G>C
  hgvsp: ENSP00000435494.1:p.Asp518His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1411G>C
  hgvsp: ENSP00000434949.1:p.Asp471His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1552G>C
  hgvsp: ENSP00000433334.1:p.Asp518His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1552G>C
  hgvsp: ENSP00000435789.1:p.Asp518His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1411G>C
  hgvsp: ENSP00000434017.1:p.Asp471His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1552G>C
  hgvsp: ENSP00000432243.1:p.Asp518His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1552G>C
  hgvsp: ENSP00000433276.1:p.Asp518His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1714G>C
  hgvsp: ENSP00000413586.2:p.Asp572His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1411G>C
  hgvsp: ENSP00000435266.1:p.Asp471His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1714G>C
  hgvsp: ENSP00000354823.4:p.Asp572His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.745G>C
  hgvsp: ENSP00000434672.1:p.Asp249His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1714G>C
  hgvsp: ENSP00000382004.4:p.Asp572His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1714G>C
  hgvsp: ENSP00000354785.6:p.Asp572His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.745G>C
  hgvsp: ENSP00000437051.1:p.Asp249His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1411G>C
  hgvsp: ENSP00000403518.2:p.Asp471His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.745G>C
  hgvsp: ENSP00000432623.1:p.Asp249His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1552G>C
  hgvsp: ENSP00000435379.1:p.Asp518His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1411G>C
  hgvsp: ENSP00000437156.1:p.Asp471His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1714G>C
  hgvsp: ENSP00000434808.1:p.Asp572His
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp572His
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

11-57572246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572246
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572246
    reference: chr 11
allele count: 1
allele frequency: 9.176669236134053e-6
allele num: 108972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1413C>T
  hgvsp: ENST00000529986.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1554C>T
  hgvsp: ENST00000534579.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.747C>T
  hgvsp: ENST00000533667.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1413C>T
  hgvsp: ENST00000532245.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1716C>T
  hgvsp: ENST00000428599.2:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1554C>T
  hgvsp: ENST00000526357.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1413C>T
  hgvsp: ENST00000528232.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1716C>T
  hgvsp: ENST00000361391.6:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1554C>T
  hgvsp: ENST00000532649.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1716C>T
  hgvsp: ENST00000399039.4:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.747C>T
  hgvsp: ENST00000527467.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1413C>T
  hgvsp: ENST00000532463.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1554C>T
  hgvsp: ENST00000532844.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.747C>T
  hgvsp: ENST00000525902.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.747C>T
  hgvsp: ENST00000531014.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1716C>T
  hgvsp: ENST00000529919.1:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1554C>T
  hgvsp: ENST00000528621.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.747C>T
  hgvsp: ENST00000526772.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1413C>T
  hgvsp: ENST00000532787.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp572Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

11-57572271-T-TTAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572271
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572274
    reference: chr 11
allele count: 2
allele frequency: 2.097623392696075e-5
allele num: 95346
alternate allele: TTAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.753+21_753+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.753+21_753+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1722+21_1722+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1722+21_1722+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.753+21_753+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1560+21_1560+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1722+21_1722+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1722+21_1722+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1560+21_1560+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1722+21_1722+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1560+21_1560+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1722+21_1722+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1560+21_1560+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1419+21_1419+23dupAAT
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

11-57572280-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572280
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572280
    reference: chr 11
allele count: 1
allele frequency: 1.102779003087781e-5
allele num: 90680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.753+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1560+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1722+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1560+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1419+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1722+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1722+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1419+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1722+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1419+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1722+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1560+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.753+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.753+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1560+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1419+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1722+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.753+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1722+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1560+28G>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1419+28G>C
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

11-57572286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572286
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572286
    reference: chr 11
allele count: 1
allele frequency: 1.137138958380714e-5
allele num: 87940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1560+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1722+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1722+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.753+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1560+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1722+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1419+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1722+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1419+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1560+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1419+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.753+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1419+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1722+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1419+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1722+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1560+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1560+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1560+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1419+34A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.753+34A>G
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

11-57572293-TCAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572293
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572290
    reference: chr 11
allele count: 1
allele frequency: 1.189909566872918e-5
allele num: 84040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1560+45_1560+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1419+45_1419+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1722+45_1722+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.753+45_753+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1419+45_1419+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.753+45_753+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1560+45_1560+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1560+45_1560+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1419+45_1419+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1419+45_1419+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1560+45_1560+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1722+45_1722+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1419+45_1419+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1722+45_1722+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1560+45_1560+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1560+45_1560+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1722+45_1722+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.753+45_753+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1560+45_1560+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1419+45_1419+47delCAC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1419+45_1419+47delCAC
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: TCAC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-57572295-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572295
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572296
    reference: chr 11
allele count: 1
allele frequency: 1.198580880237799e-5
allele num: 83432
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1722+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1419+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1722+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1560+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1419+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1560+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1419+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1419+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.753+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1722+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.753+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1560+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1722+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1560+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.753+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.753+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1419+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1419+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1560+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1419+45dupC
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1722+45dupC
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-57572295-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572295
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572295
    reference: chr 11
allele count: 1
allele frequency: 1.198580880237799e-5
allele num: 83432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.753+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1419+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1419+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1560+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.753+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1419+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1560+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1560+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1419+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1419+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1419+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1560+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.753+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1722+43A>C
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

11-57572302-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57572302
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57572302
    reference: chr 11
allele count: 1
allele frequency: 1.238850346878097e-5
allele num: 80720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1560+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1419+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1560+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.753+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.753+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1560+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1560+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1560+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1419+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1560+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1419+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.753+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1560+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1419+50C>G
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-57573312-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573312
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573312
    reference: chr 11
allele count: 4
allele frequency: 3.632994859312274e-5
allele num: 110102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.754-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.754-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.754-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1723-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1420-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1723-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1723-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1420-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.754-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1723-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1420-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1561-42A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1723-42A>G
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

11-57573313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573313
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573313
    reference: chr 11
allele count: 1
allele frequency: 9.079188683699225e-6
allele num: 110142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1420-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1561-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1723-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1723-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.754-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1723-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1723-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1420-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1420-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1561-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1723-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1420-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.754-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1561-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1723-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1723-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.754-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1420-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1561-41T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.754-41T>C
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

11-57573313-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573313
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573313
    reference: chr 11
allele count: 1
allele frequency: 9.079188683699225e-6
allele num: 110142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.754-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1723-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1561-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1420-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1723-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1723-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1561-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1723-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1420-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1561-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1561-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1420-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1420-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1723-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1723-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1723-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1561-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1561-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1420-41T>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1420-41T>G
  variant of: http://identifiers.org/hgnc/2515
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: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/11-57573331-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573331
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573331
    reference: chr 11
allele count: 3
allele frequency: 2.669039145907473e-5
allele num: 112400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1723-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.754-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1723-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.754-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.754-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1561-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1420-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1561-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1420-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1561-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1723-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1723-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1561-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1723-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1723-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1723-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1420-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1420-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1561-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-23A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1561-23A>C
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-57573332-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573332
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573332
    reference: chr 11
allele count: 1
allele frequency: 8.881310170876408e-6
allele num: 112596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1420-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1561-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.754-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1723-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1420-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.754-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.754-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1723-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1420-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1420-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1420-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1723-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1561-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1723-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1723-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1420-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1420-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1723-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1561-22T>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.754-22T>C
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-57573332-T-TTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573332
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573334
    reference: chr 11
allele count: 1
allele frequency: 8.881310170876408e-6
allele num: 112596
alternate allele: TTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1420-21_1420-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-21_754-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1420-21_1420-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.754-21_754-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.754-21_754-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1420-21_1420-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1723-21_1723-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1723-21_1723-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1723-21_1723-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1561-21_1561-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1723-21_1723-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1723-21_1723-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1723-21_1723-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1561-21_1561-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1561-21_1561-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1420-21_1420-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1561-21_1561-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.754-21_754-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1561-21_1561-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1561-21_1561-20dupTG
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1723-21_1723-20dupTG
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

11-57573343-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573343
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573343
    reference: chr 11
allele count: 5
allele frequency: 4.364906154517678e-5
allele num: 114550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1723-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1723-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.754-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1561-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1420-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1420-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1420-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1723-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1561-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1561-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1420-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1723-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1420-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1561-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000351527
  ensembl transcript: ENST00000358694
  gene symbol: CTNND1
  hgvsc: ENST00000358694.6:c.1723-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1561-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1723-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1420-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1723-11A>G
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1420-11A>G
  variant of: http://identifiers.org/hgnc/2515
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: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/11-57573351-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573351
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573351
    reference: chr 11
allele count: 1
allele frequency: 8.647975508933359e-6
allele num: 115634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1561-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1420-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1561-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1420-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1420-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1420-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1723-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1723-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1723-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.754-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1723-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1561-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1723-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1420-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1723-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1561-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1561-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1723-3A>C
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.754-3A>C
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1723-3A>C
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-57573359-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573359
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573359
    reference: chr 11
allele count: 1
allele frequency: 8.599931200550395e-6
allele num: 116280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1566A>G
  hgvsp: ENST00000529873.1:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1728A>G
  hgvsp: ENST00000526938.1:c.1728A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.759A>G
  hgvsp: ENST00000525902.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.759A>G
  hgvsp: ENST00000526772.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1425A>G
  hgvsp: ENST00000532463.1:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.759A>G
  hgvsp: ENST00000533667.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.759A>G
  hgvsp: ENST00000527467.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1566A>G
  hgvsp: ENST00000532844.1:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.759A>G
  hgvsp: ENST00000531014.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1425A>G
  hgvsp: ENST00000530094.1:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1566A>G
  hgvsp: ENST00000530748.1:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1425A>G
  hgvsp: ENST00000415361.2:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1425A>G
  hgvsp: ENST00000532787.1:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1728A>G
  hgvsp: ENST00000399050.4:c.1728A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1728A>G
  hgvsp: ENST00000428599.2:c.1728A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1566A>G
  hgvsp: ENST00000526357.1:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1425A>G
  hgvsp: ENST00000529986.1:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1566A>G
  hgvsp: ENST00000532649.1:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1425A>G
  hgvsp: ENST00000426142.2:c.1425A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val576Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-57573367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573367
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573367
    reference: chr 11
allele count: 1
allele frequency: 8.580892069539549e-6
allele num: 116538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1574G>A
  hgvsp: ENSP00000435789.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1574G>A
  hgvsp: ENSP00000433334.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1736G>A
  hgvsp: ENSP00000434808.1:p.Cys579Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1433G>A
  hgvsp: ENSP00000437156.1:p.Cys478Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1433G>A
  hgvsp: ENSP00000409930.2:p.Cys478Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.767G>A
  hgvsp: ENSP00000432623.1:p.Cys256Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1736G>A
  hgvsp: ENSP00000432041.1:p.Cys579Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1433G>A
  hgvsp: ENSP00000434949.1:p.Cys478Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1574G>A
  hgvsp: ENSP00000435494.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1736G>A
  hgvsp: ENSP00000381996.4:p.Cys579Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1574G>A
  hgvsp: ENSP00000436744.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1736G>A
  hgvsp: ENSP00000413586.2:p.Cys579Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1433G>A
  hgvsp: ENSP00000435266.1:p.Cys478Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1433G>A
  hgvsp: ENSP00000434017.1:p.Cys478Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1736G>A
  hgvsp: ENSP00000382004.4:p.Cys579Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1574G>A
  hgvsp: ENSP00000432243.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1433G>A
  hgvsp: ENSP00000403518.2:p.Cys478Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1574G>A
  hgvsp: ENSP00000435379.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1574G>A
  hgvsp: ENSP00000433276.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys579Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

11-57573367-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573367
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573367
    reference: chr 11
allele count: 1
allele frequency: 8.580892069539549e-6
allele num: 116538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1433G>C
  hgvsp: ENSP00000434017.1:p.Cys478Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.767G>C
  hgvsp: ENSP00000432623.1:p.Cys256Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1433G>C
  hgvsp: ENSP00000437156.1:p.Cys478Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.767G>C
  hgvsp: ENSP00000434900.1:p.Cys256Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1574G>C
  hgvsp: ENSP00000435379.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1433G>C
  hgvsp: ENSP00000434949.1:p.Cys478Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1574G>C
  hgvsp: ENSP00000433276.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.767G>C
  hgvsp: ENSP00000437051.1:p.Cys256Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1433G>C
  hgvsp: ENSP00000403518.2:p.Cys478Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1736G>C
  hgvsp: ENSP00000413586.2:p.Cys579Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1736G>C
  hgvsp: ENSP00000434808.1:p.Cys579Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1433G>C
  hgvsp: ENSP00000435266.1:p.Cys478Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1574G>C
  hgvsp: ENSP00000436744.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1736G>C
  hgvsp: ENSP00000382004.4:p.Cys579Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1736G>C
  hgvsp: ENSP00000354907.4:p.Cys579Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1574G>C
  hgvsp: ENSP00000435494.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1574G>C
  hgvsp: ENSP00000433334.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.767G>C
  hgvsp: ENSP00000434672.1:p.Cys256Ser
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1433G>C
  hgvsp: ENSP00000432075.1:p.Cys478Ser
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys579Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

11-57573405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573405
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573405
    reference: chr 11
allele count: 5
allele frequency: 4.431524089764952e-5
allele num: 112828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1471C>T
  hgvsp: ENSP00000432075.1:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1471C>T
  hgvsp: ENSP00000434949.1:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1774C>T
  hgvsp: ENSP00000413586.2:p.Arg592Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.805C>T
  hgvsp: ENSP00000434672.1:p.Arg269Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1471C>T
  hgvsp: ENSP00000409930.2:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1612C>T
  hgvsp: ENSP00000433334.1:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1774C>T
  hgvsp: ENSP00000381996.4:p.Arg592Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1612C>T
  hgvsp: ENSP00000432243.1:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1612C>T
  hgvsp: ENSP00000435379.1:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.805C>T
  hgvsp: ENSP00000433158.1:p.Arg269Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1774C>T
  hgvsp: ENSP00000353902.6:p.Arg592Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436323
  ensembl transcript: ENST00000529526
  gene symbol: CTNND1
  hgvsc: ENST00000529526.1:c.1612C>T
  hgvsp: ENSP00000436323.1:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1612C>T
  hgvsp: ENSP00000435494.1:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1471C>T
  hgvsp: ENSP00000437327.1:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1774C>T
  hgvsp: ENSP00000434808.1:p.Arg592Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1471C>T
  hgvsp: ENSP00000437156.1:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.805C>T
  hgvsp: ENSP00000437051.1:p.Arg269Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1471C>T
  hgvsp: ENSP00000403518.2:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.805C>T
  hgvsp: ENSP00000434900.1:p.Arg269Trp
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg592Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

11-57573421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573421
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573421
    reference: chr 11
allele count: 2
allele frequency: 1.824817518248175e-5
allele num: 109600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1628C>T
  hgvsp: ENSP00000435789.1:p.Ala543Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1628C>T
  hgvsp: ENSP00000432243.1:p.Ala543Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1487C>T
  hgvsp: ENSP00000437327.1:p.Ala496Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1628C>T
  hgvsp: ENSP00000433276.1:p.Ala543Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1628C>T
  hgvsp: ENSP00000433334.1:p.Ala543Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.821C>T
  hgvsp: ENSP00000434672.1:p.Ala274Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1790C>T
  hgvsp: ENSP00000432041.1:p.Ala597Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1487C>T
  hgvsp: ENSP00000435266.1:p.Ala496Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.821C>T
  hgvsp: ENSP00000433158.1:p.Ala274Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1487C>T
  hgvsp: ENSP00000432075.1:p.Ala496Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1790C>T
  hgvsp: ENSP00000434808.1:p.Ala597Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1487C>T
  hgvsp: ENSP00000434949.1:p.Ala496Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1487C>T
  hgvsp: ENSP00000434017.1:p.Ala496Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1790C>T
  hgvsp: ENSP00000413586.2:p.Ala597Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1628C>T
  hgvsp: ENSP00000435379.1:p.Ala543Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1487C>T
  hgvsp: ENSP00000437156.1:p.Ala496Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1628C>T
  hgvsp: ENSP00000435494.1:p.Ala543Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.821C>T
  hgvsp: ENSP00000437051.1:p.Ala274Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1790C>T
  hgvsp: ENSP00000354907.4:p.Ala597Val
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala597Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

11-57573427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573427
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573427
    reference: chr 11
allele count: 1
allele frequency: 9.238558045860202e-6
allele num: 108242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1634G>A
  hgvsp: ENSP00000435789.1:p.Arg545His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1493G>A
  hgvsp: ENSP00000435266.1:p.Arg498His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.827G>A
  hgvsp: ENSP00000434672.1:p.Arg276His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1796G>A
  hgvsp: ENSP00000413586.2:p.Arg599His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1634G>A
  hgvsp: ENSP00000436744.1:p.Arg545His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1796G>A
  hgvsp: ENSP00000436543.1:p.Arg599His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1493G>A
  hgvsp: ENSP00000434949.1:p.Arg498His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1796G>A
  hgvsp: ENSP00000381996.4:p.Arg599His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1634G>A
  hgvsp: ENSP00000433276.1:p.Arg545His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1796G>A
  hgvsp: ENSP00000434808.1:p.Arg599His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1493G>A
  hgvsp: ENSP00000432075.1:p.Arg498His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1634G>A
  hgvsp: ENSP00000435379.1:p.Arg545His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1493G>A
  hgvsp: ENSP00000409930.2:p.Arg498His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1493G>A
  hgvsp: ENSP00000403518.2:p.Arg498His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1796G>A
  hgvsp: ENSP00000432041.1:p.Arg599His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1634G>A
  hgvsp: ENSP00000435494.1:p.Arg545His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.827G>A
  hgvsp: ENSP00000433158.1:p.Arg276His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.827G>A
  hgvsp: ENSP00000437051.1:p.Arg276His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1634G>A
  hgvsp: ENSP00000433334.1:p.Arg545His
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg599His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-57573433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573433
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573433
    reference: chr 11
allele count: 3
allele frequency: 2.797620157785777e-5
allele num: 107234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1499A>G
  hgvsp: ENSP00000435266.1:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1802A>G
  hgvsp: ENSP00000354823.4:p.Gln601Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.833A>G
  hgvsp: ENSP00000433158.1:p.Gln278Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1802A>G
  hgvsp: ENSP00000434808.1:p.Gln601Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.833A>G
  hgvsp: ENSP00000437051.1:p.Gln278Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1802A>G
  hgvsp: ENSP00000354785.6:p.Gln601Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1640A>G
  hgvsp: ENSP00000436744.1:p.Gln547Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.833A>G
  hgvsp: ENSP00000432623.1:p.Gln278Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1499A>G
  hgvsp: ENSP00000409930.2:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1802A>G
  hgvsp: ENSP00000432041.1:p.Gln601Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1499A>G
  hgvsp: ENSP00000434949.1:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354907
  ensembl transcript: ENST00000361796
  gene symbol: CTNND1
  hgvsc: ENST00000361796.4:c.1802A>G
  hgvsp: ENSP00000354907.4:p.Gln601Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1499A>G
  hgvsp: ENSP00000403518.2:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1499A>G
  hgvsp: ENSP00000437327.1:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.833A>G
  hgvsp: ENSP00000434672.1:p.Gln278Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1499A>G
  hgvsp: ENSP00000437156.1:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1499A>G
  hgvsp: ENSP00000434017.1:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1802A>G
  hgvsp: ENSP00000436543.1:p.Gln601Arg
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1640A>G
  hgvsp: ENSP00000435379.1:p.Gln547Arg
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln601Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/11-57573434-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573434
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573434
    reference: chr 11
allele count: 1
allele frequency: 9.344047841524949e-6
allele num: 107020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1803A>C
  hgvsp: ENSP00000353902.6:p.Gln601His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1500A>C
  hgvsp: ENSP00000432075.1:p.Gln500His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.834A>C
  hgvsp: ENSP00000432623.1:p.Gln278His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1641A>C
  hgvsp: ENSP00000435494.1:p.Gln547His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1803A>C
  hgvsp: ENSP00000434808.1:p.Gln601His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1641A>C
  hgvsp: ENSP00000433334.1:p.Gln547His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1500A>C
  hgvsp: ENSP00000434949.1:p.Gln500His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1803A>C
  hgvsp: ENSP00000413586.2:p.Gln601His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1641A>C
  hgvsp: ENSP00000435789.1:p.Gln547His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354785
  ensembl transcript: ENST00000361391
  gene symbol: CTNND1
  hgvsc: ENST00000361391.6:c.1803A>C
  hgvsp: ENSP00000354785.6:p.Gln601His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432041
  ensembl transcript: ENST00000526938
  gene symbol: CTNND1
  hgvsc: ENST00000526938.1:c.1803A>C
  hgvsp: ENSP00000432041.1:p.Gln601His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000382004
  ensembl transcript: ENST00000399050
  gene symbol: CTNND1
  hgvsc: ENST00000399050.4:c.1803A>C
  hgvsp: ENSP00000382004.4:p.Gln601His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000409930
  ensembl transcript: ENST00000426142
  gene symbol: CTNND1
  hgvsc: ENST00000426142.2:c.1500A>C
  hgvsp: ENSP00000409930.2:p.Gln500His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432243
  ensembl transcript: ENST00000528621
  gene symbol: CTNND1
  hgvsc: ENST00000528621.1:c.1641A>C
  hgvsp: ENSP00000432243.1:p.Gln547His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1641A>C
  hgvsp: ENSP00000435379.1:p.Gln547His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.834A>C
  hgvsp: ENSP00000434672.1:p.Gln278His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.834A>C
  hgvsp: ENSP00000437051.1:p.Gln278His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000381996
  ensembl transcript: ENST00000399039
  gene symbol: CTNND1
  hgvsc: ENST00000399039.4:c.1803A>C
  hgvsp: ENSP00000381996.4:p.Gln601His
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1500A>C
  hgvsp: ENSP00000437327.1:p.Gln500His
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln601His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

11-57573439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573439
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573439
    reference: chr 11
allele count: 1
allele frequency: 9.441444163299219e-6
allele num: 105916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000403518
  ensembl transcript: ENST00000415361
  gene symbol: CTNND1
  hgvsc: ENST00000415361.2:c.1505C>T
  hgvsp: ENSP00000403518.2:p.Ala502Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1808C>T
  hgvsp: ENSP00000413586.2:p.Ala603Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1505C>T
  hgvsp: ENSP00000434949.1:p.Ala502Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1646C>T
  hgvsp: ENSP00000433334.1:p.Ala549Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433158
  ensembl transcript: ENST00000526772
  gene symbol: CTNND1
  hgvsc: ENST00000526772.1:c.839C>T
  hgvsp: ENSP00000433158.1:p.Ala280Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.839C>T
  hgvsp: ENSP00000437051.1:p.Ala280Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1505C>T
  hgvsp: ENSP00000437156.1:p.Ala502Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1808C>T
  hgvsp: ENSP00000434808.1:p.Ala603Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.839C>T
  hgvsp: ENSP00000434672.1:p.Ala280Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1505C>T
  hgvsp: ENSP00000432075.1:p.Ala502Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.839C>T
  hgvsp: ENSP00000434900.1:p.Ala280Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1505C>T
  hgvsp: ENSP00000434017.1:p.Ala502Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1646C>T
  hgvsp: ENSP00000435379.1:p.Ala549Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436744
  ensembl transcript: ENST00000530748
  gene symbol: CTNND1
  hgvsc: ENST00000530748.1:c.1646C>T
  hgvsp: ENSP00000436744.1:p.Ala549Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.839C>T
  hgvsp: ENSP00000432623.1:p.Ala280Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1808C>T
  hgvsp: ENSP00000436543.1:p.Ala603Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1808C>T
  hgvsp: ENSP00000354823.4:p.Ala603Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435266
  ensembl transcript: ENST00000528232
  gene symbol: CTNND1
  hgvsc: ENST00000528232.1:c.1505C>T
  hgvsp: ENSP00000435266.1:p.Ala502Val
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1646C>T
  hgvsp: ENSP00000433276.1:p.Ala549Val
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala603Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-57573446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57573446
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57573446
    reference: chr 11
allele count: 1
allele frequency: 9.620194712740986e-6
allele num: 103948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000354823
  ensembl transcript: ENST00000361332
  gene symbol: CTNND1
  hgvsc: ENST00000361332.4:c.1815C>T
  hgvsp: ENST00000361332.4:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000436543
  ensembl transcript: ENST00000524630
  gene symbol: CTNND1
  hgvsc: ENST00000524630.1:c.1815C>T
  hgvsp: ENST00000524630.1:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432623
  ensembl transcript: ENST00000531014
  gene symbol: CTNND1
  hgvsc: ENST00000531014.1:c.846C>T
  hgvsp: ENST00000531014.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433276
  ensembl transcript: ENST00000532844
  gene symbol: CTNND1
  hgvsc: ENST00000532844.1:c.1653C>T
  hgvsp: ENST00000532844.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434900
  ensembl transcript: ENST00000527467
  gene symbol: CTNND1
  hgvsc: ENST00000527467.1:c.846C>T
  hgvsp: ENST00000527467.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435789
  ensembl transcript: ENST00000534579
  gene symbol: CTNND1
  hgvsc: ENST00000534579.1:c.1653C>T
  hgvsp: ENST00000534579.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434808
  ensembl transcript: ENST00000529919
  gene symbol: CTNND1
  hgvsc: ENST00000529919.1:c.1815C>T
  hgvsp: ENST00000529919.1:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437327
  ensembl transcript: ENST00000530094
  gene symbol: CTNND1
  hgvsc: ENST00000530094.1:c.1512C>T
  hgvsp: ENST00000530094.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435494
  ensembl transcript: ENST00000529873
  gene symbol: CTNND1
  hgvsc: ENST00000529873.1:c.1653C>T
  hgvsp: ENST00000529873.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000435379
  ensembl transcript: ENST00000532649
  gene symbol: CTNND1
  hgvsc: ENST00000532649.1:c.1653C>T
  hgvsp: ENST00000532649.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437156
  ensembl transcript: ENST00000529986
  gene symbol: CTNND1
  hgvsc: ENST00000529986.1:c.1512C>T
  hgvsp: ENST00000529986.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434017
  ensembl transcript: ENST00000532245
  gene symbol: CTNND1
  hgvsc: ENST00000532245.1:c.1512C>T
  hgvsp: ENST00000532245.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434949
  ensembl transcript: ENST00000532787
  gene symbol: CTNND1
  hgvsc: ENST00000532787.1:c.1512C>T
  hgvsp: ENST00000532787.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000353902
  ensembl transcript: ENST00000360682
  gene symbol: CTNND1
  hgvsc: ENST00000360682.6:c.1815C>T
  hgvsp: ENST00000360682.6:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000433334
  ensembl transcript: ENST00000526357
  gene symbol: CTNND1
  hgvsc: ENST00000526357.1:c.1653C>T
  hgvsp: ENST00000526357.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000434672
  ensembl transcript: ENST00000525902
  gene symbol: CTNND1
  hgvsc: ENST00000525902.1:c.846C>T
  hgvsp: ENST00000525902.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000432075
  ensembl transcript: ENST00000532463
  gene symbol: CTNND1
  hgvsc: ENST00000532463.1:c.1512C>T
  hgvsp: ENST00000532463.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000413586
  ensembl transcript: ENST00000428599
  gene symbol: CTNND1
  hgvsc: ENST00000428599.2:c.1815C>T
  hgvsp: ENST00000428599.2:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198561
  ensembl protein: ENSP00000437051
  ensembl transcript: ENST00000533667
  gene symbol: CTNND1
  hgvsc: ENST00000533667.1:c.846C>T
  hgvsp: ENST00000533667.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Pro605Pro
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1259T>C
hgvsp: ENSP00000403518.2:p.Ile420Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1562T>C
hgvsp: ENSP00000353902.6:p.Ile521Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1562T>C
hgvsp: ENSP00000382004.4:p.Ile521Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1562T>C
hgvsp: ENSP00000436543.1:p.Ile521Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1562T>C
hgvsp: ENSP00000434808.1:p.Ile521Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1562T>C
hgvsp: ENSP00000432041.1:p.Ile521Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.593T>C
hgvsp: ENSP00000432623.1:p.Ile198Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000198561
ensembl transcript: ENST00000527599
gene symbol: CTNND1
hgvsc: ENST00000527599.1:n.344T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.593T>C
hgvsp: ENSP00000434900.1:p.Ile198Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.593T>C
hgvsp: ENSP00000433158.1:p.Ile198Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1259T>C
hgvsp: ENSP00000434017.1:p.Ile420Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1562T>C
hgvsp: ENSP00000381996.4:p.Ile521Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1400T>C
hgvsp: ENSP00000435789.1:p.Ile467Thr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1562T>C
hgvsp: ENSP00000351527.6:p.Ile521Thr
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 3092
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3484
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23711
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 702
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 472
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17563
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1382
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2681
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6286
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5090
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1819
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.569438969911969e-5
allele num: 15222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.603e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.399e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

VQSLOD
type: SiteQuality
SIO_000300: -1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -1.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.282e1

DP
type: SiteQuality
SIO_000300: 1.508538e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.602A>T
hgvsp: ENSP00000437051.1:p.Glu201Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1268A>T
hgvsp: ENSP00000403518.2:p.Glu423Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1268A>T
hgvsp: ENSP00000409930.2:p.Glu423Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1409A>T
hgvsp: ENSP00000436744.1:p.Glu470Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1571A>T
hgvsp: ENSP00000354907.4:p.Glu524Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1571A>T
hgvsp: ENSP00000436543.1:p.Glu524Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1571A>T
hgvsp: ENSP00000434808.1:p.Glu524Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1409A>T
hgvsp: ENSP00000436323.1:p.Glu470Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1409A>T
hgvsp: ENSP00000432243.1:p.Glu470Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.602A>T
hgvsp: ENSP00000432623.1:p.Glu201Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000198561
ensembl transcript: ENST00000527599
gene symbol: CTNND1
hgvsc: ENST00000527599.1:n.353A>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1268A>T
hgvsp: ENSP00000437327.1:p.Glu423Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434949
ensembl transcript: ENST00000532787
gene symbol: CTNND1
hgvsc: ENST00000532787.1:c.1268A>T
hgvsp: ENSP00000434949.1:p.Glu423Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1268A>T
hgvsp: ENSP00000437156.1:p.Glu423Val
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 465
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3407
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18373
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5512
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3359
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4234
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22084
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35868
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6367
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
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: 4
allele frequency: 6.29009938357026e-5
allele num: 63592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.587805652588123e-4
allele num: 6298
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.202e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 1.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.470574e6

VQSLOD
type: SiteQuality
SIO_000300: 9.82e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1271C>T
hgvsp: ENSP00000409930.2:p.Ser424Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1574C>T
hgvsp: ENSP00000351527.6:p.Ser525Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1574C>T
hgvsp: ENSP00000354907.4:p.Ser525Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1412C>T
hgvsp: ENSP00000432243.1:p.Ser471Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1574C>T
hgvsp: ENSP00000353902.6:p.Ser525Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000198561
ensembl transcript: ENST00000527599
gene symbol: CTNND1
hgvsc: ENST00000527599.1:n.356C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1271C>T
hgvsp: ENSP00000437156.1:p.Ser424Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1271C>T
hgvsp: ENSP00000434017.1:p.Ser424Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.605C>T
hgvsp: ENSP00000432623.1:p.Ser202Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1271C>T
hgvsp: ENSP00000403518.2:p.Ser424Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.605C>T
hgvsp: ENSP00000434900.1:p.Ser202Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1271C>T
hgvsp: ENSP00000437327.1:p.Ser424Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.605C>T
hgvsp: ENSP00000433158.1:p.Ser202Leu
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1574C>T
hgvsp: ENSP00000354823.4:p.Ser525Leu
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3373
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1231
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 685
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21549
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4459
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3559
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18676
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5363
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.808278867102397e-5
allele num: 14688
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.763999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -5.632e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

QD
type: SiteQuality
SIO_000300: 1.082e1

DP
type: SiteQuality
SIO_000300: 1.460491e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1272G>A
hgvsp: ENST00000532245.1:c.1272G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1413G>A
hgvsp: ENST00000534579.1:c.1413G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1272G>A
hgvsp: ENST00000529986.1:c.1272G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1413G>A
hgvsp: ENST00000530748.1:c.1413G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1272G>A
hgvsp: ENST00000530094.1:c.1272G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1575G>A
hgvsp: ENST00000361796.4:c.1575G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000198561
ensembl transcript: ENST00000527599
gene symbol: CTNND1
hgvsc: ENST00000527599.1:n.357G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1413G>A
hgvsp: ENST00000528621.1:c.1413G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.606G>A
hgvsp: ENST00000527467.1:c.606G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.606G>A
hgvsp: ENST00000526772.1:c.606G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1575G>A
hgvsp: ENST00000361332.4:c.1575G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1575G>A
hgvsp: ENST00000358694.6:c.1575G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.606G>A
hgvsp: ENST00000531014.1:c.606G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1575G>A
hgvsp: ENST00000361391.6:c.1575G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2515

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

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5216
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 464
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3603
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3247
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18968
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21506
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4457
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 207
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 3.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 63294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.799651567944251e-4
allele num: 9184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

FS
type: SiteQuality
SIO_000300: 5.967e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.458514e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 9.01e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1413G>T
hgvsp: ENST00000532649.1:c.1413G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.606G>T
hgvsp: ENST00000531014.1:c.606G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1575G>T
hgvsp: ENST00000524630.1:c.1575G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1575G>T
hgvsp: ENST00000361391.6:c.1575G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1575G>T
hgvsp: ENST00000361332.4:c.1575G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1575G>T
hgvsp: ENST00000360682.6:c.1575G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1272G>T
hgvsp: ENST00000529986.1:c.1272G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1272G>T
hgvsp: ENST00000426142.2:c.1272G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1272G>T
hgvsp: ENST00000530094.1:c.1272G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1272G>T
hgvsp: ENST00000532463.1:c.1272G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.606G>T
hgvsp: ENST00000526772.1:c.606G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1272G>T
hgvsp: ENST00000415361.2:c.1272G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1413G>T
hgvsp: ENST00000530748.1:c.1413G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1575G>T
hgvsp: ENST00000358694.6:c.1575G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 1215
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3247
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3603
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21506
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18968
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5216
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4457
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 882
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1518
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.817562039814562e-5
allele num: 14668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579928587227857e-5
allele num: 63294
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.458514e6

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

FS
type: SiteQuality
SIO_000300: 5.967e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1419C>T
hgvsp: ENST00000532844.1:c.1419C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.612C>T
hgvsp: ENST00000525902.1:c.612C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1581C>T
hgvsp: ENST00000361391.6:c.1581C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1419C>T
hgvsp: ENST00000530748.1:c.1419C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1581C>T
hgvsp: ENST00000361332.4:c.1581C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000198561
ensembl transcript: ENST00000527599
gene symbol: CTNND1
hgvsc: ENST00000527599.1:n.363C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1419C>T
hgvsp: ENST00000528621.1:c.1419C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1581C>T
hgvsp: ENST00000361796.4:c.1581C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1581C>T
hgvsp: ENST00000358694.6:c.1581C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433334
ensembl transcript: ENST00000526357
gene symbol: CTNND1
hgvsc: ENST00000526357.1:c.1419C>T
hgvsp: ENST00000526357.1:c.1419C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1581C>T
hgvsp: ENST00000399050.4:c.1581C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.612C>T
hgvsp: ENST00000526772.1:c.612C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1278C>T
hgvsp: ENST00000532245.1:c.1278C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1278C>T
hgvsp: ENST00000528232.1:c.1278C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4939
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4915
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4091
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 672
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20951
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19345
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.444654325651681e-5
allele num: 10588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 1.756e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.031e0

DP
type: SiteQuality
SIO_000300: 1.441387e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434949
ensembl transcript: ENST00000532787
gene symbol: CTNND1
hgvsc: ENST00000532787.1:c.1301+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1604+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1301+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1604+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1442+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1604+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1301+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000198561
ensembl transcript: ENST00000527599
gene symbol: CTNND1
hgvsc: ENST00000527599.1:n.392A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1604+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1301+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1604+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1604+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1442+6A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1604+6A>G
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1059
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15249
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8381
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15061
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3494
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12912
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1893
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20923
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.996161842315688e-5
allele num: 12506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58408
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.226923e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.48e0

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1604+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1604+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1301+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1604+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1604+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1301+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1301+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.635+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1604+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1301+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1604+11G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.635+11G>A
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 420
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 459
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3151
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10253
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12896
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1038
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9141
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2307
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 639
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19121
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25099
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.21422704123542e-5
allele num: 12174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57466
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.84e0

DP
type: SiteQuality
SIO_000300: 1.156436e6

VQSLOD
type: SiteQuality
SIO_000300: -2.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 4.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1442+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1301+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.635+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1604+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.635+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1301+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1442+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433334
ensembl transcript: ENST00000526357
gene symbol: CTNND1
hgvsc: ENST00000526357.1:c.1442+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1604+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1301+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.635+17T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.635+17T>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24586
bin: 1.25e1
variant carriers: 6

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 808
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9187
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3485
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9855
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 631
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6784
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 146
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2622
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30557
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16354
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.115075825156111e-4
allele num: 8968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.902508248483344e-4
allele num: 56374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.213297743266198e-4
allele num: 8242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11702
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

FS
type: SiteQuality
SIO_000300: 7.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

DP
type: SiteQuality
SIO_000300: 1.052458e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.635+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.635+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1442+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000413586
ensembl transcript: ENST00000428599
gene symbol: CTNND1
hgvsc: ENST00000428599.2:c.1604+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1604+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1442+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1604+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1301+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1604+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.635+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1442+21A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1604+21A>G
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2299
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10246
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5717
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4131
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7498
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26439
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1022
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 304
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14068
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.795912503142847e-5
allele num: 55682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e0

DP
type: SiteQuality
SIO_000300: 1.008323e6

VQSLOD
type: SiteQuality
SIO_000300: -5.016e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1301+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1442+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1301+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.635+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.635+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1604+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1604+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1604+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1442+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1604+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1442+26G>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1604+26G>T
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10721
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5543
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1987
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4288
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1462
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28046
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 620
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.54519e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1442+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1604+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1301+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.635+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1604+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1301+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1604+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1604+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1301+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1442+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1604+49C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1301+49C>T
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8383
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20836
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20741
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1300
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2796
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2624
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 494
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13788
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7701
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.520383017672322e-5
allele num: 28406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 7.79933e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1442+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1604+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1442+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434949
ensembl transcript: ENST00000532787
gene symbol: CTNND1
hgvsc: ENST00000532787.1:c.1301+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1604+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1442+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1301+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1604+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.635+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1301+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.635+50T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1604+50T>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 2777
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20687
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1303
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 873
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8399
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2624
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20893
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13659
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7679
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.489914148111956e-5
allele num: 28654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
type: SiteQuality
SIO_000300: 7.80328e5

VQSLOD
type: SiteQuality
SIO_000300: -5.703e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.04e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.636-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1443-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1302-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1443-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.636-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1302-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1443-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1302-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1302-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1302-50G>A
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1605-50G>A
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 7352
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9651
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3868
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 463
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18336
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13778
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1058
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7844
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 745
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7047
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.828889132740773e-5
allele num: 54678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.269875e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

QD
type: SiteQuality
SIO_000300: 1.494e1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: -9.93e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1605-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1302-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1302-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1443-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.636-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1302-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1605-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.636-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1443-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1443-40C>T
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.636-40C>T
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8976
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9486
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17934
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1063
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 753
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4254
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12578
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6777
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3522
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9540
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.808449074074074e-5
allele num: 55296
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

DP
type: SiteQuality
SIO_000300: 1.303557e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 1.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1443-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.636-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.636-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1605-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1443-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1605-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1605-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1605-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1605-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1605-34T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.636-34T>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1098
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9380
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5848
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 482
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17367
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4785
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16087
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2053
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5616
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 270
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8778
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: 7016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.784567064030266e-5
allele num: 56036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13726
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.345717e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.943e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1615T>C
hgvsp: ENSP00000353902.6:p.Ser539Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1453T>C
hgvsp: ENSP00000436323.1:p.Ser485Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1615T>C
hgvsp: ENSP00000382004.4:p.Ser539Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433334
ensembl transcript: ENST00000526357
gene symbol: CTNND1
hgvsc: ENST00000526357.1:c.1453T>C
hgvsp: ENSP00000433334.1:p.Ser485Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1615T>C
hgvsp: ENSP00000354823.4:p.Ser539Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1312T>C
hgvsp: ENSP00000403518.2:p.Ser438Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1312T>C
hgvsp: ENSP00000434017.1:p.Ser438Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1312T>C
hgvsp: ENSP00000409930.2:p.Ser438Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1615T>C
hgvsp: ENSP00000381996.4:p.Ser539Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1312T>C
hgvsp: ENSP00000437327.1:p.Ser438Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1312T>C
hgvsp: ENSP00000437156.1:p.Ser438Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1312T>C
hgvsp: ENSP00000432075.1:p.Ser438Pro
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1615T>C
hgvsp: ENSP00000432041.1:p.Ser539Pro
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 1660
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1825
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10478
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 39537
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1041
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
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: 1
allele frequency: 6.466632177961717e-5
allele num: 15464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.675596e6

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.667C>T
hgvsp: ENSP00000434900.1:p.Arg223Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1333C>T
hgvsp: ENSP00000435266.1:p.Arg445Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1636C>T
hgvsp: ENSP00000436543.1:p.Arg546Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1474C>T
hgvsp: ENSP00000435789.1:p.Arg492Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1333C>T
hgvsp: ENSP00000437156.1:p.Arg445Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1636C>T
hgvsp: ENSP00000432041.1:p.Arg546Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1636C>T
hgvsp: ENSP00000354785.6:p.Arg546Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1333C>T
hgvsp: ENSP00000437327.1:p.Arg445Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1474C>T
hgvsp: ENSP00000436323.1:p.Arg492Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1636C>T
hgvsp: ENSP00000354823.4:p.Arg546Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1333C>T
hgvsp: ENSP00000409930.2:p.Arg445Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1474C>T
hgvsp: ENSP00000436744.1:p.Arg492Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1636C>T
hgvsp: ENSP00000381996.4:p.Arg546Trp
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 520
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11646
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 811
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1963
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39715
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4912
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.288517167651868e-5
allele num: 15902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 1.702921e6

VQSLOD
type: SiteQuality
SIO_000300: -1.883e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1475G>A
hgvsp: ENSP00000432243.1:p.Arg492Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1334G>A
hgvsp: ENSP00000437327.1:p.Arg445Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1334G>A
hgvsp: ENSP00000409930.2:p.Arg445Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1475G>A
hgvsp: ENSP00000436323.1:p.Arg492Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.668G>A
hgvsp: ENSP00000433158.1:p.Arg223Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.668G>A
hgvsp: ENSP00000432623.1:p.Arg223Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1475G>A
hgvsp: ENSP00000436744.1:p.Arg492Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1637G>A
hgvsp: ENSP00000436543.1:p.Arg546Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1637G>A
hgvsp: ENSP00000351527.6:p.Arg546Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1334G>A
hgvsp: ENSP00000403518.2:p.Arg445Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1637G>A
hgvsp: ENSP00000382004.4:p.Arg546Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1637G>A
hgvsp: ENSP00000354785.6:p.Arg546Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1637G>A
hgvsp: ENSP00000432041.1:p.Arg546Gln
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 11765
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39597
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1979
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 372
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 1
allele frequency: 6.287726358148894e-5
allele num: 15904
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.443e0

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 6.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.704289e6

MQ
type: SiteQuality
SIO_000300: 5.844e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1338A>G
hgvsp: ENST00000532245.1:c.1338A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.672A>G
hgvsp: ENST00000526772.1:c.672A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.672A>G
hgvsp: ENST00000527467.1:c.672A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1641A>G
hgvsp: ENST00000361391.6:c.1641A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1338A>G
hgvsp: ENST00000530094.1:c.1338A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1479A>G
hgvsp: ENST00000534579.1:c.1479A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1479A>G
hgvsp: ENST00000529526.1:c.1479A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1641A>G
hgvsp: ENST00000360682.6:c.1641A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1479A>G
hgvsp: ENST00000532649.1:c.1479A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1338A>G
hgvsp: ENST00000528232.1:c.1338A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1479A>G
hgvsp: ENST00000530748.1:c.1479A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1641A>G
hgvsp: ENST00000358694.6:c.1641A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1479A>G
hgvsp: ENST00000528621.1:c.1479A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1933
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 39790
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 720
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11843
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757469244288225e-4
allele num: 11380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 2.597e0

DP
type: SiteQuality
SIO_000300: 1.705816e6

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1342C>T
hgvsp: ENSP00000435266.1:p.Arg448Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1342C>T
hgvsp: ENSP00000437156.1:p.Arg448Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1645C>T
hgvsp: ENSP00000351527.6:p.Arg549Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1645C>T
hgvsp: ENSP00000354823.4:p.Arg549Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.676C>T
hgvsp: ENSP00000433158.1:p.Arg226Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1342C>T
hgvsp: ENSP00000437327.1:p.Arg448Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1483C>T
hgvsp: ENSP00000435789.1:p.Arg495Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1645C>T
hgvsp: ENSP00000354907.4:p.Arg549Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1645C>T
hgvsp: ENSP00000381996.4:p.Arg549Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1483C>T
hgvsp: ENSP00000432243.1:p.Arg495Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1483C>T
hgvsp: ENSP00000433276.1:p.Arg495Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1342C>T
hgvsp: ENSP00000409930.2:p.Arg448Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1342C>T
hgvsp: ENSP00000434017.1:p.Arg448Trp
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 11922
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1989
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39761
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 672
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.147e0

DP
type: SiteQuality
SIO_000300: 1.708409e6

FS
type: SiteQuality
SIO_000300: 1.261e0

QD
type: SiteQuality
SIO_000300: 1.019e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.677G>A
hgvsp: ENSP00000437051.1:p.Arg226Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1646G>A
hgvsp: ENSP00000354907.4:p.Arg549Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1646G>A
hgvsp: ENSP00000436543.1:p.Arg549Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1646G>A
hgvsp: ENSP00000354785.6:p.Arg549Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1484G>A
hgvsp: ENSP00000436323.1:p.Arg495Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433334
ensembl transcript: ENST00000526357
gene symbol: CTNND1
hgvsc: ENST00000526357.1:c.1484G>A
hgvsp: ENSP00000433334.1:p.Arg495Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1646G>A
hgvsp: ENSP00000353902.6:p.Arg549Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1646G>A
hgvsp: ENSP00000432041.1:p.Arg549Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1646G>A
hgvsp: ENSP00000382004.4:p.Arg549Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1343G>A
hgvsp: ENSP00000409930.2:p.Arg448Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1484G>A
hgvsp: ENSP00000435789.1:p.Arg495Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.677G>A
hgvsp: ENSP00000432623.1:p.Arg226Gln
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1343G>A
hgvsp: ENSP00000437156.1:p.Arg448Gln
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11963
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 244
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39758
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1991
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48253
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4911
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.998e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 2.071e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 2.195e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.709403e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1492G>A
hgvsp: ENSP00000436744.1:p.Asp498Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1351G>A
hgvsp: ENSP00000434017.1:p.Asp451Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.685G>A
hgvsp: ENSP00000433158.1:p.Asp229Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1654G>A
hgvsp: ENSP00000353902.6:p.Asp552Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.685G>A
hgvsp: ENSP00000434900.1:p.Asp229Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1492G>A
hgvsp: ENSP00000436323.1:p.Asp498Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1654G>A
hgvsp: ENSP00000432041.1:p.Asp552Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1351G>A
hgvsp: ENSP00000409930.2:p.Asp451Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1654G>A
hgvsp: ENSP00000354907.4:p.Asp552Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1654G>A
hgvsp: ENSP00000354785.6:p.Asp552Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1654G>A
hgvsp: ENSP00000354823.4:p.Asp552Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1492G>A
hgvsp: ENSP00000435789.1:p.Asp498Asn
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1351G>A
hgvsp: ENSP00000437327.1:p.Asp451Asn
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39753
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12134
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 328
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 504
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 783
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.215040397762585e-5
allele num: 16090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.913e0

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.711204e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.688G>A
hgvsp: ENSP00000434672.1:p.Gly230Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1495G>A
hgvsp: ENSP00000435494.1:p.Gly499Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1657G>A
hgvsp: ENSP00000351527.6:p.Gly553Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.688G>A
hgvsp: ENSP00000437051.1:p.Gly230Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1495G>A
hgvsp: ENSP00000436744.1:p.Gly499Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1354G>A
hgvsp: ENSP00000434017.1:p.Gly452Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1657G>A
hgvsp: ENSP00000432041.1:p.Gly553Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1657G>A
hgvsp: ENSP00000354785.6:p.Gly553Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1657G>A
hgvsp: ENSP00000354907.4:p.Gly553Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.688G>A
hgvsp: ENSP00000434900.1:p.Gly230Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1657G>A
hgvsp: ENSP00000436543.1:p.Gly553Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1657G>A
hgvsp: ENSP00000353902.6:p.Gly553Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1657G>A
hgvsp: ENSP00000354823.4:p.Gly553Ser
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 213
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 338
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 601
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39702
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 789
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.577e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.711326e6

QD
type: SiteQuality
SIO_000300: 9.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.226e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1369C>T
hgvsp: ENSP00000432075.1:p.Leu457Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1369C>T
hgvsp: ENSP00000409930.2:p.Leu457Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1510C>T
hgvsp: ENSP00000432243.1:p.Leu504Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1672C>T
hgvsp: ENSP00000436543.1:p.Leu558Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1510C>T
hgvsp: ENSP00000436744.1:p.Leu504Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1672C>T
hgvsp: ENSP00000353902.6:p.Leu558Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1672C>T
hgvsp: ENSP00000381996.4:p.Leu558Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1510C>T
hgvsp: ENSP00000436323.1:p.Leu504Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1672C>T
hgvsp: ENSP00000432041.1:p.Leu558Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1369C>T
hgvsp: ENSP00000435266.1:p.Leu457Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1672C>T
hgvsp: ENSP00000382004.4:p.Leu558Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.703C>T
hgvsp: ENSP00000433158.1:p.Leu235Phe
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1672C>T
hgvsp: ENSP00000354823.4:p.Leu558Phe
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 255
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12322
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 511
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 792
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1997
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39052
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4914
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.072763563781528e-5
allele num: 66132
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.889e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

QD
type: SiteQuality
SIO_000300: 1.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.708145e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1513A>G
hgvsp: ENSP00000435379.1:p.Ile505Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1372A>G
hgvsp: ENSP00000434017.1:p.Ile458Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1513A>G
hgvsp: ENSP00000435789.1:p.Ile505Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1675A>G
hgvsp: ENSP00000382004.4:p.Ile559Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1372A>G
hgvsp: ENSP00000409930.2:p.Ile458Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1675A>G
hgvsp: ENSP00000354907.4:p.Ile559Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.706A>G
hgvsp: ENSP00000434900.1:p.Ile236Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1372A>G
hgvsp: ENSP00000435266.1:p.Ile458Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1513A>G
hgvsp: ENSP00000433276.1:p.Ile505Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.706A>G
hgvsp: ENSP00000432623.1:p.Ile236Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1675A>G
hgvsp: ENSP00000354785.6:p.Ile559Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1675A>G
hgvsp: ENSP00000432041.1:p.Ile559Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1675A>G
hgvsp: ENSP00000354823.4:p.Ile559Val
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 502
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 366
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 267
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12350
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 38894
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1965
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4912
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47843
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.052536012589275e-5
allele num: 66088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.087e1

DP
type: SiteQuality
SIO_000300: 1.705671e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 1.577e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1714G>C
hgvsp: ENSP00000432041.1:p.Asp572His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1552G>C
hgvsp: ENSP00000436323.1:p.Asp518His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.745G>C
hgvsp: ENSP00000433158.1:p.Asp249His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1714G>C
hgvsp: ENSP00000436543.1:p.Asp572His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1552G>C
hgvsp: ENSP00000436744.1:p.Asp518His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1411G>C
hgvsp: ENSP00000432075.1:p.Asp471His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1714G>C
hgvsp: ENSP00000351527.6:p.Asp572His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1714G>C
hgvsp: ENSP00000354907.4:p.Asp572His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1714G>C
hgvsp: ENSP00000353902.6:p.Asp572His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1411G>C
hgvsp: ENSP00000409930.2:p.Asp471His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1411G>C
hgvsp: ENSP00000437327.1:p.Asp471His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.745G>C
hgvsp: ENSP00000434900.1:p.Asp249His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1714G>C
hgvsp: ENSP00000381996.4:p.Asp572His
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28056
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7640
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1771
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5205
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10693
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4906
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.503128911138924e-4
allele num: 7990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.005e1

DP
type: SiteQuality
SIO_000300: 1.557667e6

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1554C>T
hgvsp: ENST00000529526.1:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1413C>T
hgvsp: ENST00000415361.2:c.1413C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1413C>T
hgvsp: ENST00000530094.1:c.1413C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1716C>T
hgvsp: ENST00000361796.4:c.1716C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1716C>T
hgvsp: ENST00000526938.1:c.1716C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1716C>T
hgvsp: ENST00000358694.6:c.1716C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1554C>T
hgvsp: ENST00000529873.1:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1716C>T
hgvsp: ENST00000399050.4:c.1716C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1716C>T
hgvsp: ENST00000361332.4:c.1716C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1554C>T
hgvsp: ENST00000530748.1:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1413C>T
hgvsp: ENST00000426142.2:c.1413C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1716C>T
hgvsp: ENST00000360682.6:c.1716C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1716C>T
hgvsp: ENST00000524630.1:c.1716C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26512
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8738
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1817
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5713
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10354
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1798
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4905
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.836204539239814e-5
allele num: 14628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.926e0

QD
type: SiteQuality
SIO_000300: 1.766e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.536861e6

VQSLOD
type: SiteQuality
SIO_000300: -4.926e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1560+21_1560+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1560+21_1560+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.753+21_753+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1560+21_1560+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1722+21_1722+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.753+21_753+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1722+21_1722+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1722+21_1722+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1560+21_1560+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1722+21_1722+23dupAAT
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1722+21_1722+23dupAAT
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 448
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1054
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11359
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5199
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1046
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9338
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21781
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5301
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4903
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 600
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6760
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.770454716838851e-5
allele num: 53044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 1.258484e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.461e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.792e0

QD
type: SiteQuality
SIO_000300: 1.855e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1560+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.753+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1722+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1722+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1722+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1419+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1722+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1419+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1560+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1560+28G>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1419+28G>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 898
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1777
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3836
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6321
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12696
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7255
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22293
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4901
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4059
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5593
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.290988897495481e-4
allele num: 7746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50540
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 8.44e0

DP
type: SiteQuality
SIO_000300: 1.201043e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1722+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.753+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1419+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1722+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1722+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1419+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1722+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.753+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1560+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1722+34A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1560+34A>G
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3083
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8787
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21351
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4941
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13917
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2204
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7327
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19628
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4900
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.659475605708596e-4
allele num: 6026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49004
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 7.64e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.170579e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1722+45_1722+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1722+45_1722+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1722+45_1722+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1560+45_1560+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.753+45_753+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.753+45_753+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1722+45_1722+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1419+45_1419+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1722+45_1722+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1722+45_1722+47delCAC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1722+45_1722+47delCAC
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9619
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2310
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4578
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19765
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15671
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2376
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16968
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7443
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4899
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 822
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5681
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4946
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.362026695723236e-4
allele num: 7342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.147287e6

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.392e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.753+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1560+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1722+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1722+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1560+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000413586
ensembl transcript: ENST00000428599
gene symbol: CTNND1
hgvsc: ENST00000428599.2:c.1722+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1722+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1722+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1722+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1560+45dupC
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1419+45dupC
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19622
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15882
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2332
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9529
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2321
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5627
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4900
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.149613069647463e-5
allele num: 46520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

DP
type: SiteQuality
SIO_000300: 1.145282e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1722+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1419+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1560+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433334
ensembl transcript: ENST00000526357
gene symbol: CTNND1
hgvsc: ENST00000526357.1:c.1560+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1560+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1419+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1560+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.753+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1722+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.753+43A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1722+43A>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 9529
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2332
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15882
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19622
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2321
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4900
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1789
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5627
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.149613069647463e-5
allele num: 46520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 7.93e0

DP
type: SiteQuality
SIO_000300: 1.145282e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.753+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1419+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1722+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1419+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434949
ensembl transcript: ENST00000532787
gene symbol: CTNND1
hgvsc: ENST00000532787.1:c.1419+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1722+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1722+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1419+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1722+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.753+50C>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1560+50C>G
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 2205
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4791
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16604
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18978
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9383
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2342
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6578
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4899
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1695
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4977
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.224001423360911e-5
allele num: 44964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

DP
type: SiteQuality
SIO_000300: 1.141353e6

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1723-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1723-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1420-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1723-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1723-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1723-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1420-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1420-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1723-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1420-42A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1420-42A>G
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18430
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13905
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9859
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6949
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4951
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6287
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 9.75e1
variant carriers: 4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.824060999717594e-4
allele num: 14164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.293199e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 6.055e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.53e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1723-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1561-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1420-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1561-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1420-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1723-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1723-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1561-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1723-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1561-41T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1420-41T>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19409
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7007
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4947
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9017
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13726
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.057163020465773e-5
allele num: 14170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

DP
type: SiteQuality
SIO_000300: 1.299279e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1420-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.754-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1561-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.754-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1723-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.754-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1723-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1420-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1561-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1723-41T>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1723-41T>G
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7007
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13726
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9017
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4947
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19409
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632759690428763e-5
allele num: 61246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.299279e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.498e1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.754-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1723-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1723-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1420-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1420-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1420-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1723-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433334
ensembl transcript: ENST00000526357
gene symbol: CTNND1
hgvsc: ENST00000526357.1:c.1561-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1420-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1561-23A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1723-23A>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1681
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8817
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1863
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33584
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4047
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5924
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.213367609254498e-4
allele num: 9336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 1.436602e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1723-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1561-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1561-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1561-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1723-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1723-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1723-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1723-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1420-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1561-22T>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1561-22T>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 3976
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8882
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5605
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1576
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1861
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34020
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38184
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.800870511425463e-5
allele num: 14704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.44164e6

QD
type: SiteQuality
SIO_000300: 2.159e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1723-21_1723-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1420-21_1420-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1561-21_1561-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1723-21_1723-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.754-21_754-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1420-21_1420-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1723-21_1723-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1561-21_1561-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1420-21_1420-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000413586
ensembl transcript: ENST00000428599
gene symbol: CTNND1
hgvsc: ENST00000428599.2:c.1723-21_1723-20dupTG
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1420-21_1420-20dupTG
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 1576
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8882
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5605
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34020
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1861
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3976
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38184
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3800
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598158920923096e-5
allele num: 62572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 1.44164e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 2.159e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.754-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1561-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1723-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1723-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1561-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.754-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.754-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1723-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1723-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1420-11A>G
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1561-11A>G
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 3070
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10317
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2012
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3051
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36424
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1064
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 685
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 41640
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.294241665568586e-4
allele num: 15178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
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: 9416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.119e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.492395e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1561-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434949
ensembl transcript: ENST00000532787
gene symbol: CTNND1
hgvsc: ENST00000532787.1:c.1420-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1723-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.754-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1723-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1723-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1420-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.754-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.754-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1723-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435379
ensembl transcript: ENST00000532649
gene symbol: CTNND1
hgvsc: ENST00000532649.1:c.1561-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1420-3A>C
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1561-3A>C
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2512
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37344
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2179
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11009
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2061
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 697
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558943659776136e-5
allele num: 64146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15426
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.515011e6

QD
type: SiteQuality
SIO_000300: 1.496e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQ
type: SiteQuality
SIO_000300: 5.769e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1425A>G
hgvsp: ENST00000532245.1:c.1425A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1728A>G
hgvsp: ENST00000360682.6:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1728A>G
hgvsp: ENST00000361796.4:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1728A>G
hgvsp: ENST00000361332.4:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1728A>G
hgvsp: ENST00000361391.6:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434808
ensembl transcript: ENST00000529919
gene symbol: CTNND1
hgvsc: ENST00000529919.1:c.1728A>G
hgvsp: ENST00000529919.1:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1566A>G
hgvsp: ENST00000529526.1:c.1566A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1728A>G
hgvsp: ENST00000524630.1:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1566A>G
hgvsp: ENST00000528621.1:c.1566A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1425A>G
hgvsp: ENST00000528232.1:c.1425A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1728A>G
hgvsp: ENST00000399039.4:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1728A>G
hgvsp: ENST00000358694.6:c.1728A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1566A>G
hgvsp: ENST00000534579.1:c.1566A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 1756
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 549
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2096
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11495
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37638
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 753
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2202
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3922
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.417661404184315e-5
allele num: 15582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.527792e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

VQSLOD
type: SiteQuality
SIO_000300: -9.325e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.73e0

FS
type: SiteQuality
SIO_000300: 3.029e0

QD
type: SiteQuality
SIO_000300: 1.154e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.019e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.767G>A
hgvsp: ENSP00000433158.1:p.Cys256Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434672
ensembl transcript: ENST00000525902
gene symbol: CTNND1
hgvsc: ENST00000525902.1:c.767G>A
hgvsp: ENSP00000434672.1:p.Cys256Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437051
ensembl transcript: ENST00000533667
gene symbol: CTNND1
hgvsc: ENST00000533667.1:c.767G>A
hgvsp: ENSP00000437051.1:p.Cys256Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1433G>A
hgvsp: ENSP00000432075.1:p.Cys478Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1736G>A
hgvsp: ENSP00000353902.6:p.Cys579Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.767G>A
hgvsp: ENSP00000434900.1:p.Cys256Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1736G>A
hgvsp: ENSP00000354785.6:p.Cys579Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1574G>A
hgvsp: ENSP00000436323.1:p.Cys525Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1433G>A
hgvsp: ENSP00000437327.1:p.Cys478Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1736G>A
hgvsp: ENSP00000436543.1:p.Cys579Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1736G>A
hgvsp: ENSP00000354823.4:p.Cys579Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1736G>A
hgvsp: ENSP00000354907.4:p.Cys579Tyr
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1736G>A
hgvsp: ENSP00000351527.6:p.Cys579Tyr
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 772
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2082
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2128
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37417
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1653
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11897
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546981838433217e-5
allele num: 64642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 4.046e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 1.533803e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1433G>C
hgvsp: ENSP00000409930.2:p.Cys478Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1574G>C
hgvsp: ENSP00000432243.1:p.Cys525Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1736G>C
hgvsp: ENSP00000354785.6:p.Cys579Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1736G>C
hgvsp: ENSP00000381996.4:p.Cys579Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1736G>C
hgvsp: ENSP00000353902.6:p.Cys579Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1736G>C
hgvsp: ENSP00000436543.1:p.Cys579Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1736G>C
hgvsp: ENSP00000354823.4:p.Cys579Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1574G>C
hgvsp: ENSP00000436323.1:p.Cys525Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1433G>C
hgvsp: ENSP00000437327.1:p.Cys478Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.767G>C
hgvsp: ENSP00000433158.1:p.Cys256Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1574G>C
hgvsp: ENSP00000435789.1:p.Cys525Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1736G>C
hgvsp: ENSP00000432041.1:p.Cys579Ser
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1736G>C
hgvsp: ENSP00000351527.6:p.Cys579Ser
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37417
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11897
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2128
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2082
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 772
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1653
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3951
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.067827348567283e-5
allele num: 11028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

FS
type: SiteQuality
SIO_000300: 4.046e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.533803e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1471C>T
hgvsp: ENSP00000435266.1:p.Arg491Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1612C>T
hgvsp: ENSP00000435789.1:p.Arg538Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1774C>T
hgvsp: ENSP00000354907.4:p.Arg592Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1774C>T
hgvsp: ENSP00000382004.4:p.Arg592Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1612C>T
hgvsp: ENSP00000436744.1:p.Arg538Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.805C>T
hgvsp: ENSP00000432623.1:p.Arg269Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1774C>T
hgvsp: ENSP00000354785.6:p.Arg592Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1774C>T
hgvsp: ENSP00000354823.4:p.Arg592Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1774C>T
hgvsp: ENSP00000432041.1:p.Arg592Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1612C>T
hgvsp: ENSP00000433276.1:p.Arg538Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1774C>T
hgvsp: ENSP00000351527.6:p.Arg592Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1774C>T
hgvsp: ENSP00000436543.1:p.Arg592Trp
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1471C>T
hgvsp: ENSP00000434017.1:p.Arg491Trp
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 549
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3418
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11821
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 429
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4730
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2193
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3783
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3801
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1490
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.393657491768166e-5
allele num: 62562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.567713122290818e-5
allele num: 15226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.471431e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1790C>T
hgvsp: ENSP00000353902.6:p.Ala597Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.821C>T
hgvsp: ENSP00000434900.1:p.Ala274Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1487C>T
hgvsp: ENSP00000409930.2:p.Ala496Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1628C>T
hgvsp: ENSP00000436323.1:p.Ala543Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1628C>T
hgvsp: ENSP00000436744.1:p.Ala543Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1790C>T
hgvsp: ENSP00000354823.4:p.Ala597Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1790C>T
hgvsp: ENSP00000351527.6:p.Ala597Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1790C>T
hgvsp: ENSP00000436543.1:p.Ala597Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.821C>T
hgvsp: ENSP00000432623.1:p.Ala274Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1790C>T
hgvsp: ENSP00000382004.4:p.Ala597Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1790C>T
hgvsp: ENSP00000381996.4:p.Ala597Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1790C>T
hgvsp: ENSP00000354785.6:p.Ala597Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1487C>T
hgvsp: ENSP00000403518.2:p.Ala496Val
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 7042
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25373
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5159
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1979
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5383
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10984
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30070
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9623
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60756
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: 9070
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.004409701342955e-4
allele num: 9978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14888
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.225e0

FS
type: SiteQuality
SIO_000300: 1.128e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

DP
type: SiteQuality
SIO_000300: 1.410613e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1796G>A
hgvsp: ENSP00000354823.4:p.Arg599His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1796G>A
hgvsp: ENSP00000354907.4:p.Arg599His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.827G>A
hgvsp: ENSP00000434900.1:p.Arg276His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1796G>A
hgvsp: ENSP00000382004.4:p.Arg599His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1634G>A
hgvsp: ENSP00000432243.1:p.Arg545His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432623
ensembl transcript: ENST00000531014
gene symbol: CTNND1
hgvsc: ENST00000531014.1:c.827G>A
hgvsp: ENSP00000432623.1:p.Arg276His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1796G>A
hgvsp: ENSP00000351527.6:p.Arg599His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1493G>A
hgvsp: ENSP00000437327.1:p.Arg498His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1493G>A
hgvsp: ENSP00000437156.1:p.Arg498His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1493G>A
hgvsp: ENSP00000434017.1:p.Arg498His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1796G>A
hgvsp: ENSP00000354785.6:p.Arg599His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1634G>A
hgvsp: ENSP00000436323.1:p.Arg545His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1796G>A
hgvsp: ENSP00000353902.6:p.Arg599His
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 5968
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24273
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1922
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7738
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5569
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10437
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1715
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28580
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14766
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.112347052280312e-4
allele num: 8990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 8.56e0

FS
type: SiteQuality
SIO_000300: 1.775e0

VQSLOD
type: SiteQuality
SIO_000300: -1.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.766e0

DP
type: SiteQuality
SIO_000300: 1.390142e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433334
ensembl transcript: ENST00000526357
gene symbol: CTNND1
hgvsc: ENST00000526357.1:c.1640A>G
hgvsp: ENSP00000433334.1:p.Gln547Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.833A>G
hgvsp: ENSP00000434900.1:p.Gln278Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1802A>G
hgvsp: ENSP00000353902.6:p.Gln601Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1640A>G
hgvsp: ENSP00000435494.1:p.Gln547Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1802A>G
hgvsp: ENSP00000351527.6:p.Gln601Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1640A>G
hgvsp: ENSP00000436323.1:p.Gln547Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1640A>G
hgvsp: ENSP00000432243.1:p.Gln547Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432075
ensembl transcript: ENST00000532463
gene symbol: CTNND1
hgvsc: ENST00000532463.1:c.1499A>G
hgvsp: ENSP00000432075.1:p.Gln500Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1802A>G
hgvsp: ENSP00000382004.4:p.Gln601Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1640A>G
hgvsp: ENSP00000435789.1:p.Gln547Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1802A>G
hgvsp: ENSP00000381996.4:p.Gln601Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1640A>G
hgvsp: ENSP00000433276.1:p.Gln547Arg
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000413586
ensembl transcript: ENST00000428599
gene symbol: CTNND1
hgvsc: ENST00000428599.2:c.1802A>G
hgvsp: ENSP00000413586.2:p.Gln601Arg
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 667
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8346
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6555
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10076
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5693
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1817
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23412
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11659
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 3
allele frequency: 3.87997930677703e-4
allele num: 7732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.371926e6

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.043e1

FS
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433276
ensembl transcript: ENST00000532844
gene symbol: CTNND1
hgvsc: ENST00000532844.1:c.1641A>C
hgvsp: ENSP00000433276.1:p.Gln547His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437156
ensembl transcript: ENST00000529986
gene symbol: CTNND1
hgvsc: ENST00000529986.1:c.1500A>C
hgvsp: ENSP00000437156.1:p.Gln500His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.834A>C
hgvsp: ENSP00000433158.1:p.Gln278His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1803A>C
hgvsp: ENSP00000354907.4:p.Gln601His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1641A>C
hgvsp: ENSP00000436744.1:p.Gln547His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1500A>C
hgvsp: ENSP00000403518.2:p.Gln500His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434017
ensembl transcript: ENST00000532245
gene symbol: CTNND1
hgvsc: ENST00000532245.1:c.1500A>C
hgvsp: ENSP00000434017.1:p.Gln500His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1500A>C
hgvsp: ENSP00000435266.1:p.Gln500His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436543
ensembl transcript: ENST00000524630
gene symbol: CTNND1
hgvsc: ENST00000524630.1:c.1803A>C
hgvsp: ENSP00000436543.1:p.Gln601His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1641A>C
hgvsp: ENSP00000436323.1:p.Gln547His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1803A>C
hgvsp: ENSP00000351527.6:p.Gln601His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354823
ensembl transcript: ENST00000361332
gene symbol: CTNND1
hgvsc: ENST00000361332.4:c.1803A>C
hgvsp: ENSP00000354823.4:p.Gln601His
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000434900
ensembl transcript: ENST00000527467
gene symbol: CTNND1
hgvsc: ENST00000527467.1:c.834A>C
hgvsp: ENSP00000434900.1:p.Gln278His
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 23350
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1805
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9977
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8440
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5701
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6625
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11767
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.825006825006825e-5
allele num: 14652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.336e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.859e0

DP
type: SiteQuality
SIO_000300: 1.369142e6

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435789
ensembl transcript: ENST00000534579
gene symbol: CTNND1
hgvsc: ENST00000534579.1:c.1646C>T
hgvsp: ENSP00000435789.1:p.Ala549Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000353902
ensembl transcript: ENST00000360682
gene symbol: CTNND1
hgvsc: ENST00000360682.6:c.1808C>T
hgvsp: ENSP00000353902.6:p.Ala603Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1646C>T
hgvsp: ENSP00000436323.1:p.Ala549Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1808C>T
hgvsp: ENSP00000381996.4:p.Ala603Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1808C>T
hgvsp: ENSP00000351527.6:p.Ala603Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1505C>T
hgvsp: ENSP00000409930.2:p.Ala502Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1646C>T
hgvsp: ENSP00000432243.1:p.Ala549Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1808C>T
hgvsp: ENSP00000354907.4:p.Ala603Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1808C>T
hgvsp: ENSP00000432041.1:p.Ala603Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435494
ensembl transcript: ENST00000529873
gene symbol: CTNND1
hgvsc: ENST00000529873.1:c.1646C>T
hgvsp: ENSP00000435494.1:p.Ala549Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1808C>T
hgvsp: ENSP00000382004.4:p.Ala603Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1808C>T
hgvsp: ENSP00000354785.6:p.Ala603Val
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000437327
ensembl transcript: ENST00000530094
gene symbol: CTNND1
hgvsc: ENST00000530094.1:c.1505C>T
hgvsp: ENSP00000437327.1:p.Ala502Val
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5788
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22605
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8979
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1815
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 664
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7064
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9634
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1039
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12534
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.70299727520436e-5
allele num: 58720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.354847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 2.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

QD
type: SiteQuality
SIO_000300: 1.698e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432243
ensembl transcript: ENST00000528621
gene symbol: CTNND1
hgvsc: ENST00000528621.1:c.1653C>T
hgvsp: ENST00000528621.1:c.1653C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000409930
ensembl transcript: ENST00000426142
gene symbol: CTNND1
hgvsc: ENST00000426142.2:c.1512C>T
hgvsp: ENST00000426142.2:c.1512C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000435266
ensembl transcript: ENST00000528232
gene symbol: CTNND1
hgvsc: ENST00000528232.1:c.1512C>T
hgvsp: ENST00000528232.1:c.1512C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000351527
ensembl transcript: ENST00000358694
gene symbol: CTNND1
hgvsc: ENST00000358694.6:c.1815C>T
hgvsp: ENST00000358694.6:c.1815C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436744
ensembl transcript: ENST00000530748
gene symbol: CTNND1
hgvsc: ENST00000530748.1:c.1653C>T
hgvsp: ENST00000530748.1:c.1653C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000436323
ensembl transcript: ENST00000529526
gene symbol: CTNND1
hgvsc: ENST00000529526.1:c.1653C>T
hgvsp: ENST00000529526.1:c.1653C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354785
ensembl transcript: ENST00000361391
gene symbol: CTNND1
hgvsc: ENST00000361391.6:c.1815C>T
hgvsp: ENST00000361391.6:c.1815C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000432041
ensembl transcript: ENST00000526938
gene symbol: CTNND1
hgvsc: ENST00000526938.1:c.1815C>T
hgvsp: ENST00000526938.1:c.1815C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000403518
ensembl transcript: ENST00000415361
gene symbol: CTNND1
hgvsc: ENST00000415361.2:c.1512C>T
hgvsp: ENST00000415361.2:c.1512C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000354907
ensembl transcript: ENST00000361796
gene symbol: CTNND1
hgvsc: ENST00000361796.4:c.1815C>T
hgvsp: ENST00000361796.4:c.1815C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000381996
ensembl transcript: ENST00000399039
gene symbol: CTNND1
hgvsc: ENST00000399039.4:c.1815C>T
hgvsp: ENST00000399039.4:c.1815C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000382004
ensembl transcript: ENST00000399050
gene symbol: CTNND1
hgvsc: ENST00000399050.4:c.1815C>T
hgvsp: ENST00000399050.4:c.1815C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000198561
ensembl protein: ENSP00000433158
ensembl transcript: ENST00000526772
gene symbol: CTNND1
hgvsc: ENST00000526772.1:c.846C>T
hgvsp: ENST00000526772.1:c.846C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2515

GenotypeDepth
all individuals: 21013
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1774
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9956
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 5.25e1
variant carriers: 1