19-36001163-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001163
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001162
    reference: chr 19
allele count: 1
allele frequency: 1.699870809818454e-5
allele num: 58828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-100delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.58-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470510
  ensembl transcript: ENST00000467532
  gene symbol: DMKN
  hgvsc: ENST00000467532.1:c.50-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.88-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.50-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.736-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-100delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000470857
  gene symbol: DMKN
  hgvsc: ENST00000470857.1:n.49-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.58-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000482321
  gene symbol: DMKN
  hgvsc: ENST00000482321.1:n.101-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471112
  ensembl transcript: ENST00000467637
  gene symbol: DMKN
  hgvsc: ENST00000467637.1:c.58-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.179delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000384509
  ensembl transcript: ENST00000402589
  gene symbol: DMKN
  hgvsc: ENST00000402589.2:c.58-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.50-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.50-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.137delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471451
  ensembl transcript: ENST00000464709
  gene symbol: DMKN
  hgvsc: ENST00000464709.2:c.50-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.58-10delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.128delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.50-10delT
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: GA
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-36001181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001181
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 47996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470881
  ensembl transcript: ENST00000462721
  gene symbol: DMKN
  hgvsc: ENST00000462721.1:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471670
  ensembl transcript: ENST00000493979
  gene symbol: DMKN
  hgvsc: ENST00000493979.1:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.58-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.*68C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470510
  ensembl transcript: ENST00000467532
  gene symbol: DMKN
  hgvsc: ENST00000467532.1:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-168C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000476043
  ensembl transcript: ENST00000470746
  gene symbol: DMKN
  hgvsc: ENST00000470746.2:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.111C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000470857
  gene symbol: DMKN
  hgvsc: ENST00000470857.1:n.49-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.58-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.120C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000486450
  gene symbol: DMKN
  hgvsc: ENST00000486450.1:n.62-27C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-117C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-117C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.50-27C>T
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

19-36001185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001185
    reference: chr 19
allele count: 1
allele frequency: 2.240143369175627e-5
allele num: 44640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.50-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472349
  ensembl transcript: ENST00000480502
  gene symbol: DMKN
  hgvsc: ENST00000480502.1:c.58-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.58-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-121A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-121A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.158A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.*64A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.58-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.107A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.58-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473296
  ensembl transcript: ENST00000602679
  gene symbol: DMKN
  hgvsc: ENST00000602679.1:c.-172A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.50-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472127
  ensembl transcript: ENST00000483855
  gene symbol: DMKN
  hgvsc: ENST00000483855.1:c.50-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.50-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.58-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.50-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.58-31A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.50-31A>G
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-36001187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001187
    reference: chr 19
allele count: 1
allele frequency: 2.81864817633463e-5
allele num: 35478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.50-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.58-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.50-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.*62G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.58-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.50-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.50-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000470857
  gene symbol: DMKN
  hgvsc: ENST00000470857.1:n.49-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473341
  ensembl transcript: ENST00000472252
  gene symbol: DMKN
  hgvsc: ENST00000472252.2:c.-90-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-174G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000474992
  gene symbol: DMKN
  hgvsc: ENST00000474992.1:n.46-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473296
  ensembl transcript: ENST00000602679
  gene symbol: DMKN
  hgvsc: ENST00000602679.1:c.-174G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.88-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.50-33G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.105G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.114G>A
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

19-36001192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001192
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001192
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 34630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.100C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.88-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473296
  ensembl transcript: ENST00000602679
  gene symbol: DMKN
  hgvsc: ENST00000602679.1:c.-179C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.58-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.50-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.50-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000486450
  gene symbol: DMKN
  hgvsc: ENST00000486450.1:n.62-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-179C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000476043
  ensembl transcript: ENST00000470746
  gene symbol: DMKN
  hgvsc: ENST00000470746.2:c.50-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470510
  ensembl transcript: ENST00000467532
  gene symbol: DMKN
  hgvsc: ENST00000467532.1:c.50-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-128C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.151C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.50-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.109C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-128C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.50-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000403957
  ensembl transcript: ENST00000458071
  gene symbol: DMKN
  hgvsc: ENST00000458071.1:c.58-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472349
  ensembl transcript: ENST00000480502
  gene symbol: DMKN
  hgvsc: ENST00000480502.1:c.58-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-38C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.50-38C>T
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-36001204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001204
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001204
    reference: chr 19
allele count: 2
allele frequency: 6.695681285570806e-5
allele num: 29870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473341
  ensembl transcript: ENST00000472252
  gene symbol: DMKN
  hgvsc: ENST00000472252.2:c.-90-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470881
  ensembl transcript: ENST00000462721
  gene symbol: DMKN
  hgvsc: ENST00000462721.1:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.88C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.58-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473296
  ensembl transcript: ENST00000602679
  gene symbol: DMKN
  hgvsc: ENST00000602679.1:c.-191C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.97C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.88-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472127
  ensembl transcript: ENST00000483855
  gene symbol: DMKN
  hgvsc: ENST00000483855.1:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000471786
  gene symbol: DMKN
  hgvsc: ENST00000471786.2:n.58-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000412075
  ensembl transcript: ENST00000436012
  gene symbol: DMKN
  hgvsc: ENST00000436012.1:c.58-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-140C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000476043
  ensembl transcript: ENST00000470746
  gene symbol: DMKN
  hgvsc: ENST00000470746.2:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.50-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000403957
  ensembl transcript: ENST00000458071
  gene symbol: DMKN
  hgvsc: ENST00000458071.1:c.58-50C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.139C>T
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

19-36001206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001206
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 27358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473296
  ensembl transcript: ENST00000602679
  gene symbol: DMKN
  hgvsc: ENST00000602679.1:c.-193G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.58-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473341
  ensembl transcript: ENST00000472252
  gene symbol: DMKN
  hgvsc: ENST00000472252.2:c.-90-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.736-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469923
  ensembl transcript: ENST00000498593
  gene symbol: DMKN
  hgvsc: ENST00000498593.1:c.50-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.58-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468987
  ensembl transcript: ENST00000498211
  gene symbol: DMKN
  hgvsc: ENST00000498211.1:c.50-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-193G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.58-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.919-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-142G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-142G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.137G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.58-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471451
  ensembl transcript: ENST00000464709
  gene symbol: DMKN
  hgvsc: ENST00000464709.2:c.50-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.50-52G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.95G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000471786
  gene symbol: DMKN
  hgvsc: ENST00000471786.2:n.58-52G>A
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-36001219-AGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001219
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001217
    reference: chr 19
allele count: 1
allele frequency: 3.901677721420211e-5
allele num: 25630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-157_-156delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000470857
  gene symbol: DMKN
  hgvsc: ENST00000470857.1:n.48+52_48+53delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.49+60_49+61delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.57+52_57+53delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.57+52_57+53delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.87+52_87+53delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.736-67_736-66delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.49+60_49+61delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-67_919-66delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000482321
  gene symbol: DMKN
  hgvsc: ENST00000482321.1:n.100+52_100+53delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472349
  ensembl transcript: ENST00000480502
  gene symbol: DMKN
  hgvsc: ENST00000480502.1:c.57+52_57+53delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.736-67_736-66delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.919-67_919-66delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-67_919-66delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.49+60_49+61delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-208_-207delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-157_-156delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.*28_*29delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.57+52_57+53delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.122_123delGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470510
  ensembl transcript: ENST00000467532
  gene symbol: DMKN
  hgvsc: ENST00000467532.1:c.49+60_49+61delGC
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: AGC
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-36001223-G-GAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001223
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001225
    reference: chr 19
allele count: 1
allele frequency: 3.971090461440712e-5
allele num: 25182
alternate allele: GAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000471786
  gene symbol: DMKN
  hgvsc: ENST00000471786.2:n.57+49_57+50insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473296
  ensembl transcript: ENST00000602679
  gene symbol: DMKN
  hgvsc: ENST00000602679.1:c.-211_-210insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.49+57_49+58insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.49+57_49+58insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-211_-210insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.57+49_57+50insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.*25_*26insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.49+57_49+58insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.87+49_87+50insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.77_78insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.49+57_49+58insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.49+57_49+58insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.68_69insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471451
  ensembl transcript: ENST00000464709
  gene symbol: DMKN
  hgvsc: ENST00000464709.2:c.49+57_49+58insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469923
  ensembl transcript: ENST00000498593
  gene symbol: DMKN
  hgvsc: ENST00000498593.1:c.49+57_49+58insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-160_-159insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.57+49_57+50insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.57+49_57+50insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472349
  ensembl transcript: ENST00000480502
  gene symbol: DMKN
  hgvsc: ENST00000480502.1:c.57+49_57+50insGT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-70_919-69insGT
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-36001233-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001233
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 24596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473296
  ensembl transcript: ENST00000602679
  gene symbol: DMKN
  hgvsc: ENST00000602679.1:c.-220A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.57+40A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.110A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.49+48A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.68A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.49+48A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-169A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.57+40A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.87+40A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.919-79A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.49+48A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.57+40A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.57+40A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.49+48A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-79A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-79A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000476043
  ensembl transcript: ENST00000470746
  gene symbol: DMKN
  hgvsc: ENST00000470746.2:c.49+48A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.57+40A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-220A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.*16A>G
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-36001290-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001290
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001288
    reference: chr 19
allele count: 1
allele frequency: 4.219409282700422e-5
allele num: 23700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.38_39delAA
  hgvsp: ENSP00000470775.1:p.Lys13ArgfsTer57
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-279_-278delAA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.38_39delAA
  hgvsp: ENSP00000468840.1:p.Lys13ArgfsTer74
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.38_39delAA
  hgvsp: ENSP00000397005.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472127
  ensembl transcript: ENST00000483855
  gene symbol: DMKN
  hgvsc: ENST00000483855.1:c.38_39delAA
  hgvsp: ENSP00000472127.1:p.Lys13ArgfsTer55
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.38_39delAA
  hgvsp: ENSP00000470425.1:p.Lys13ArgfsTer74
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000486450
  gene symbol: DMKN
  hgvsc: ENST00000486450.1:n.42_43delAA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000412075
  ensembl transcript: ENST00000436012
  gene symbol: DMKN
  hgvsc: ENST00000436012.1:c.38_39delAA
  hgvsp: ENSP00000412075.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.38_39delAA
  hgvsp: ENSP00000471288.1:p.Lys13ArgfsTer64
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-228_-227delAA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.38_39delAA
  hgvsp: ENSP00000392222.2:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000465927
  gene symbol: DMKN
  hgvsc: ENST00000465927.1:n.9_10delAA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.38_39delAA
  hgvsp: ENSP00000473526.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473341
  ensembl transcript: ENST00000472252
  gene symbol: DMKN
  hgvsc: ENST00000472252.2:c.-102_-101delAA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000462126
  gene symbol: DMKN
  hgvsc: ENST00000462126.1:n.27+93_27+94delAA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.38_39delAA
  hgvsp: ENSP00000469845.1:p.Lys13ArgfsTer55
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470510
  ensembl transcript: ENST00000467532
  gene symbol: DMKN
  hgvsc: ENST00000467532.1:c.38_39delAA
  hgvsp: ENSP00000470510.1:p.Lys13ArgfsTer57
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471112
  ensembl transcript: ENST00000467637
  gene symbol: DMKN
  hgvsc: ENST00000467637.1:c.38_39delAA
  hgvsp: ENSP00000471112.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000403957
  ensembl transcript: ENST00000458071
  gene symbol: DMKN
  hgvsc: ENST00000458071.1:c.38_39delAA
  hgvsp: ENSP00000403957.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys13ArgfsTer27
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: CTT
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

19-36001291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001291
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001291
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469923
  ensembl transcript: ENST00000498593
  gene symbol: DMKN
  hgvsc: ENST00000498593.1:c.39A>G
  hgvsp: ENST00000498593.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472127
  ensembl transcript: ENST00000483855
  gene symbol: DMKN
  hgvsc: ENST00000483855.1:c.39A>G
  hgvsp: ENST00000483855.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471670
  ensembl transcript: ENST00000493979
  gene symbol: DMKN
  hgvsc: ENST00000493979.1:c.39A>G
  hgvsp: ENST00000493979.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.39A>G
  hgvsp: ENST00000493517.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.39A>G
  hgvsp: ENST00000463292.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.39A>G
  hgvsp: ENST00000414866.2:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.39A>G
  hgvsp: ENST00000602781.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.39A>G
  hgvsp: ENST00000392206.2:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471112
  ensembl transcript: ENST00000467637
  gene symbol: DMKN
  hgvsc: ENST00000467637.1:c.39A>G
  hgvsp: ENST00000467637.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-227A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000470857
  gene symbol: DMKN
  hgvsc: ENST00000470857.1:n.30A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472349
  ensembl transcript: ENST00000480502
  gene symbol: DMKN
  hgvsc: ENST00000480502.1:c.39A>G
  hgvsp: ENST00000480502.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.39A>G
  hgvsp: ENST00000488762.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471451
  ensembl transcript: ENST00000464709
  gene symbol: DMKN
  hgvsc: ENST00000464709.2:c.39A>G
  hgvsp: ENST00000464709.2:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-137A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000403957
  ensembl transcript: ENST00000458071
  gene symbol: DMKN
  hgvsc: ENST00000458071.1:c.39A>G
  hgvsp: ENST00000458071.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.39A>G
  hgvsp: ENST00000460051.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000498269
  gene symbol: DMKN
  hgvsc: ENST00000498269.1:n.1A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-137A>G
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys13Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-36001292-TTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001292
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001290
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000403957
  ensembl transcript: ENST00000458071
  gene symbol: DMKN
  hgvsc: ENST00000458071.1:c.36_37delTA
  hgvsp: ENSP00000403957.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.36_37delTA
  hgvsp: ENSP00000473526.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.36_37delTA
  hgvsp: ENSP00000376042.2:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.919-140_919-139delTA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471112
  ensembl transcript: ENST00000467637
  gene symbol: DMKN
  hgvsc: ENST00000467637.1:c.36_37delTA
  hgvsp: ENSP00000471112.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.36_37delTA
  hgvsp: ENSP00000473191.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000412075
  ensembl transcript: ENST00000436012
  gene symbol: DMKN
  hgvsc: ENST00000436012.1:c.36_37delTA
  hgvsp: ENSP00000412075.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.36_37delTA
  hgvsp: ENSP00000397005.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469923
  ensembl transcript: ENST00000498593
  gene symbol: DMKN
  hgvsc: ENST00000498593.1:c.36_37delTA
  hgvsp: ENSP00000469923.1:p.Lys13ArgfsTer64
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.36_37delTA
  hgvsp: ENSP00000470033.1:p.Lys13ArgfsTer41
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.36_37delTA
  hgvsp: ENSP00000470425.1:p.Lys13ArgfsTer74
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.36_37delTA
  hgvsp: ENSP00000472344.1:p.Lys13ArgfsTer74
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.36_37delTA
  hgvsp: ENSP00000470775.1:p.Lys13ArgfsTer57
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472349
  ensembl transcript: ENST00000480502
  gene symbol: DMKN
  hgvsc: ENST00000480502.1:c.36_37delTA
  hgvsp: ENSP00000472349.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000482321
  gene symbol: DMKN
  hgvsc: ENST00000482321.1:n.79_80delTA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.36_37delTA
  hgvsp: ENSP00000406864.1:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-230_-229delTA
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.36_37delTA
  hgvsp: ENSP00000392222.2:p.Lys13ArgfsTer27
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.736-140_736-139delTA
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys13ArgfsTer27
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: TTA
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-36001303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001303
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001303
    reference: chr 19
allele count: 2
allele frequency: 8.470986869970351e-5
allele num: 23610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471451
  ensembl transcript: ENST00000464709
  gene symbol: DMKN
  hgvsc: ENST00000464709.2:c.27C>T
  hgvsp: ENST00000464709.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473341
  ensembl transcript: ENST00000472252
  gene symbol: DMKN
  hgvsc: ENST00000472252.2:c.-113C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.27C>T
  hgvsp: ENST00000414866.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.27C>T
  hgvsp: ENST00000602781.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.27C>T
  hgvsp: ENST00000464894.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000412075
  ensembl transcript: ENST00000436012
  gene symbol: DMKN
  hgvsc: ENST00000436012.1:c.27C>T
  hgvsp: ENST00000436012.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468987
  ensembl transcript: ENST00000498211
  gene symbol: DMKN
  hgvsc: ENST00000498211.1:c.27C>T
  hgvsp: ENST00000498211.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000476043
  ensembl transcript: ENST00000470746
  gene symbol: DMKN
  hgvsc: ENST00000470746.2:c.27C>T
  hgvsp: ENST00000470746.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470881
  ensembl transcript: ENST00000462721
  gene symbol: DMKN
  hgvsc: ENST00000462721.1:c.27C>T
  hgvsp: ENST00000462721.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471670
  ensembl transcript: ENST00000493979
  gene symbol: DMKN
  hgvsc: ENST00000493979.1:c.27C>T
  hgvsp: ENST00000493979.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.57C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.27C>T
  hgvsp: ENST00000488892.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470510
  ensembl transcript: ENST00000467532
  gene symbol: DMKN
  hgvsc: ENST00000467532.1:c.27C>T
  hgvsp: ENST00000467532.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474419
  ensembl transcript: ENST00000492341
  gene symbol: DMKN
  hgvsc: ENST00000492341.2:c.-239C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.27C>T
  hgvsp: ENST00000392206.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-149C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.27C>T
  hgvsp: ENST00000488762.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-290C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-149C>T
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp9Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-36001311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001311
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001311
    reference: chr 19
allele count: 1
allele frequency: 4.244121891180715e-5
allele num: 23562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468987
  ensembl transcript: ENST00000498211
  gene symbol: DMKN
  hgvsc: ENST00000498211.1:c.19T>C
  hgvsp: ENSP00000468987.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470510
  ensembl transcript: ENST00000467532
  gene symbol: DMKN
  hgvsc: ENST00000467532.1:c.19T>C
  hgvsp: ENSP00000470510.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.19T>C
  hgvsp: ENSP00000469824.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.19T>C
  hgvsp: ENSP00000470033.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.49T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-157T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471112
  ensembl transcript: ENST00000467637
  gene symbol: DMKN
  hgvsc: ENST00000467637.1:c.19T>C
  hgvsp: ENSP00000471112.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.19T>C
  hgvsp: ENSP00000392222.2:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000482321
  gene symbol: DMKN
  hgvsc: ENST00000482321.1:n.62T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.19T>C
  hgvsp: ENSP00000406864.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.19T>C
  hgvsp: ENSP00000397005.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471670
  ensembl transcript: ENST00000493979
  gene symbol: DMKN
  hgvsc: ENST00000493979.1:c.19T>C
  hgvsp: ENSP00000471670.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.19T>C
  hgvsp: ENSP00000474992.2:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.19T>C
  hgvsp: ENSP00000470775.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.19T>C
  hgvsp: ENSP00000472344.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000476051
  gene symbol: DMKN
  hgvsc: ENST00000476051.1:n.32T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-157T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.19T>C
  hgvsp: ENSP00000473191.1:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000384509
  ensembl transcript: ENST00000402589
  gene symbol: DMKN
  hgvsc: ENST00000402589.2:c.19T>C
  hgvsp: ENSP00000384509.2:p.Cys7Arg
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys7Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

19-36001313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001313
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001313
    reference: chr 19
allele count: 44
allele frequency: 1.868523866145745e-3
allele num: 23548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.736-159C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471451
  ensembl transcript: ENST00000464709
  gene symbol: DMKN
  hgvsc: ENST00000464709.2:c.17C>T
  hgvsp: ENSP00000471451.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473526
  ensembl transcript: ENST00000602781
  gene symbol: DMKN
  hgvsc: ENST00000602781.1:c.17C>T
  hgvsp: ENSP00000473526.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.17C>T
  hgvsp: ENSP00000472344.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-159C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.17C>T
  hgvsp: ENSP00000470425.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.17C>T
  hgvsp: ENSP00000468840.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471670
  ensembl transcript: ENST00000493979
  gene symbol: DMKN
  hgvsc: ENST00000493979.1:c.17C>T
  hgvsp: ENSP00000471670.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468987
  ensembl transcript: ENST00000498211
  gene symbol: DMKN
  hgvsc: ENST00000498211.1:c.17C>T
  hgvsp: ENSP00000468987.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472349
  ensembl transcript: ENST00000480502
  gene symbol: DMKN
  hgvsc: ENST00000480502.1:c.17C>T
  hgvsp: ENSP00000472349.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.17C>T
  hgvsp: ENSP00000472262.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.17C>T
  hgvsp: ENSP00000406864.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.17C>T
  hgvsp: ENSP00000392222.2:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000403957
  ensembl transcript: ENST00000458071
  gene symbol: DMKN
  hgvsc: ENST00000458071.1:c.17C>T
  hgvsp: ENSP00000403957.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000412075
  ensembl transcript: ENST00000436012
  gene symbol: DMKN
  hgvsc: ENST00000436012.1:c.17C>T
  hgvsp: ENSP00000412075.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.17C>T
  hgvsp: ENSP00000471288.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.47C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.17C>T
  hgvsp: ENSP00000397005.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.17C>T
  hgvsp: ENSP00000469824.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser6Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-36001319-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001319
    reference: chr 19
allele count: 2
allele frequency: 8.507018290089324e-5
allele num: 23510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-165T>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.919-165T>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471451
  ensembl transcript: ENST00000464709
  gene symbol: DMKN
  hgvsc: ENST00000464709.2:c.11T>A
  hgvsp: ENSP00000471451.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.11T>A
  hgvsp: ENSP00000470775.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000406864
  ensembl transcript: ENST00000443640
  gene symbol: DMKN
  hgvsc: ENST00000443640.1:c.11T>A
  hgvsp: ENSP00000406864.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.919-165T>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471112
  ensembl transcript: ENST00000467637
  gene symbol: DMKN
  hgvsc: ENST00000467637.1:c.11T>A
  hgvsp: ENSP00000471112.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.11T>A
  hgvsp: ENSP00000469845.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.11T>A
  hgvsp: ENSP00000392222.2:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000403957
  ensembl transcript: ENST00000458071
  gene symbol: DMKN
  hgvsc: ENST00000458071.1:c.11T>A
  hgvsp: ENSP00000403957.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471288
  ensembl transcript: ENST00000460051
  gene symbol: DMKN
  hgvsc: ENST00000460051.1:c.11T>A
  hgvsp: ENSP00000471288.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000482321
  gene symbol: DMKN
  hgvsc: ENST00000482321.1:n.54T>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.11T>A
  hgvsp: ENSP00000397005.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000384509
  ensembl transcript: ENST00000402589
  gene symbol: DMKN
  hgvsc: ENST00000402589.2:c.11T>A
  hgvsp: ENSP00000384509.2:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000474992
  gene symbol: DMKN
  hgvsc: ENST00000474992.1:n.7T>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.11T>A
  hgvsp: ENSP00000469824.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473341
  ensembl transcript: ENST00000472252
  gene symbol: DMKN
  hgvsc: ENST00000472252.2:c.-129T>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474992
  ensembl transcript: ENST00000488542
  gene symbol: DMKN
  hgvsc: ENST00000488542.2:c.11T>A
  hgvsp: ENSP00000474992.2:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.11T>A
  hgvsp: ENSP00000470425.1:p.Ile4Lys
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile4Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-36001340-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001340
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001340
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472344
  ensembl transcript: ENST00000476246
  gene symbol: DMKN
  hgvsc: ENST00000476246.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-186T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-276T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-186T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.736-186T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000472065
  gene symbol: DMKN
  hgvsc: ENST00000472065.1:n.20T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470033
  ensembl transcript: ENST00000488762
  gene symbol: DMKN
  hgvsc: ENST00000488762.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470881
  ensembl transcript: ENST00000462721
  gene symbol: DMKN
  hgvsc: ENST00000462721.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-327T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000412075
  ensembl transcript: ENST00000436012
  gene symbol: DMKN
  hgvsc: ENST00000436012.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000471112
  ensembl transcript: ENST00000467637
  gene symbol: DMKN
  hgvsc: ENST00000467637.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000397005
  ensembl transcript: ENST00000450261
  gene symbol: DMKN
  hgvsc: ENST00000450261.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-186T>G
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-36001367-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001367
    reference: chr 19
allele count: 1
allele frequency: 4.363382494109434e-5
allele num: 22918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469923
  ensembl transcript: ENST00000498593
  gene symbol: DMKN
  hgvsc: ENST00000498593.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000482321
  gene symbol: DMKN
  hgvsc: ENST00000482321.1:n.6G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000462126
  gene symbol: DMKN
  hgvsc: ENST00000462126.1:n.27+18G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-213G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.919-213G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-354G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.736-213G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.919-213G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-303G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.-38G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-213G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-213G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-213G>C
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-36001370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001370
    reference: chr 19
allele count: 1
allele frequency: 4.375218760938047e-5
allele num: 22856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-357T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.919-216T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469923
  ensembl transcript: ENST00000498593
  gene symbol: DMKN
  hgvsc: ENST00000498593.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-216T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000462126
  gene symbol: DMKN
  hgvsc: ENST00000462126.1:n.27+15T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000482321
  gene symbol: DMKN
  hgvsc: ENST00000482321.1:n.3T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.736-216T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-306T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-216T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-216T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.919-216T>C
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-36001371-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36001371
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36001371
    reference: chr 19
allele count: 2
allele frequency: 8.745845723281441e-5
allele num: 22868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469824
  ensembl transcript: ENST00000493517
  gene symbol: DMKN
  hgvsc: ENST00000493517.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000392222
  ensembl transcript: ENST00000414866
  gene symbol: DMKN
  hgvsc: ENST00000414866.2:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000472262
  ensembl transcript: ENST00000462538
  gene symbol: DMKN
  hgvsc: ENST00000462538.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.919-217T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469845
  ensembl transcript: ENST00000464894
  gene symbol: DMKN
  hgvsc: ENST00000464894.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000376042
  ensembl transcript: ENST00000392206
  gene symbol: DMKN
  hgvsc: ENST00000392206.2:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000468840
  ensembl transcript: ENST00000463292
  gene symbol: DMKN
  hgvsc: ENST00000463292.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000469923
  ensembl transcript: ENST00000498593
  gene symbol: DMKN
  hgvsc: ENST00000498593.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474123
  ensembl transcript: ENST00000474928
  gene symbol: DMKN
  hgvsc: ENST00000474928.1:c.-358T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.919-217T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000474098
  ensembl transcript: ENST00000461300
  gene symbol: DMKN
  hgvsc: ENST00000461300.1:c.-307T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.736-217T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.919-217T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470775
  ensembl transcript: ENST00000480507
  gene symbol: DMKN
  hgvsc: ENST00000480507.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.919-217T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.919-217T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl transcript: ENST00000462126
  gene symbol: DMKN
  hgvsc: ENST00000462126.1:n.27+14T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000470425
  ensembl transcript: ENST00000490622
  gene symbol: DMKN
  hgvsc: ENST00000490622.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.736-217T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000473191
  ensembl transcript: ENST00000488892
  gene symbol: DMKN
  hgvsc: ENST00000488892.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/25063
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-36002271-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002271
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002271
    reference: chr 19
allele count: 2
allele frequency: 1.66730580055688e-5
allele num: 119954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.918+42C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.918+42C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+394C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.918+42C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.918+42C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+394C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.918+42C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.918+42C>T
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-36002271-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002271
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002271
    reference: chr 19
allele count: 1
allele frequency: 8.3365290027844e-6
allele num: 119954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.918+42C>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.918+42C>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+394C>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.918+42C>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+394C>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.918+42C>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.918+42C>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.918+42C>A
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37028
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

19-36002273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002273
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002273
    reference: chr 19
allele count: 5
allele frequency: 4.169794012175799e-5
allele num: 119910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.918+40G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+392G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.918+40G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.918+40G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.918+40G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.918+40G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.918+40G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+392G>A
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26696
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-36002277-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002277
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002277
    reference: chr 19
allele count: 177
allele frequency: 1.476230191826522e-3
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.918+36G>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+388G>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.918+36G>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.918+36G>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.918+36G>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+388G>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.918+36G>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.918+36G>T
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 26760
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-36002294-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002294
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002294
    reference: chr 19
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.918+19T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+371T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.918+19T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.918+19T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.918+19T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+371T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.918+19T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.918+19T>G
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-36002308-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002308
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002308
    reference: chr 19
allele count: 1
allele frequency: 8.41651657212113e-6
allele num: 118814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.918+5G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.918+5G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.918+5G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+357G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.918+5G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+357G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.918+5G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.918+5G>C
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
hgvs: c.918+5G>C
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

19-36002322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002322
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002322
    reference: chr 19
allele count: 1
allele frequency: 8.717179817985285e-6
allele num: 114716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.909G>A
  hgvsp: ENST00000451297.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.909G>A
  hgvsp: ENST00000339686.3:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.909G>A
  hgvsp: ENST00000447113.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.909G>A
  hgvsp: ENST00000418261.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.909G>A
  hgvsp: ENST00000424570.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.909G>A
  hgvsp: ENST00000440396.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+343G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+343G>A
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu303Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-36002330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002330
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002330
    reference: chr 19
allele count: 2
allele frequency: 1.769504361828252e-5
allele num: 113026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.901G>A
  hgvsp: ENSP00000414743.1:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.901G>A
  hgvsp: ENSP00000342012.3:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.901G>A
  hgvsp: ENSP00000415277.1:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.901G>A
  hgvsp: ENSP00000409513.2:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+335G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+335G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.901G>A
  hgvsp: ENSP00000388404.2:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.901G>A
  hgvsp: ENSP00000394908.2:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly301Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

19-36002331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002331
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002331
    reference: chr 19
allele count: 6
allele frequency: 5.335799658508822e-5
allele num: 112448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.900C>T
  hgvsp: ENST00000451297.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+334C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+334C>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.900C>T
  hgvsp: ENST00000424570.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.900C>T
  hgvsp: ENST00000418261.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.900C>T
  hgvsp: ENST00000339686.3:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.900C>T
  hgvsp: ENST00000447113.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.900C>T
  hgvsp: ENST00000440396.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser300Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

19-36002335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002335
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002335
    reference: chr 19
allele count: 2
allele frequency: 1.815837736739845e-5
allele num: 110142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.896A>G
  hgvsp: ENSP00000414743.1:p.Asp299Gly
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.896A>G
  hgvsp: ENSP00000409513.2:p.Asp299Gly
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.896A>G
  hgvsp: ENSP00000415277.1:p.Asp299Gly
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.896A>G
  hgvsp: ENSP00000394908.2:p.Asp299Gly
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+330A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+330A>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.896A>G
  hgvsp: ENSP00000342012.3:p.Asp299Gly
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.896A>G
  hgvsp: ENSP00000388404.2:p.Asp299Gly
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp299Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/19-36002337-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002337
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002337
    reference: chr 19
allele count: 2
allele frequency: 1.848053076084345e-5
allele num: 108222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+328T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.894T>G
  hgvsp: ENST00000339686.3:c.894T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.894T>G
  hgvsp: ENST00000440396.1:c.894T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+328T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.894T>G
  hgvsp: ENST00000418261.1:c.894T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.894T>G
  hgvsp: ENST00000447113.2:c.894T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.894T>G
  hgvsp: ENST00000424570.2:c.894T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.894T>G
  hgvsp: ENST00000451297.2:c.894T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly298Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-36002339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002339
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002339
    reference: chr 19
allele count: 2
allele frequency: 1.833718414200315e-5
allele num: 109068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.892G>A
  hgvsp: ENSP00000409513.2:p.Gly298Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.892G>A
  hgvsp: ENSP00000388404.2:p.Gly298Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.892G>A
  hgvsp: ENSP00000414743.1:p.Gly298Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.892G>A
  hgvsp: ENSP00000394908.2:p.Gly298Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+326G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.892G>A
  hgvsp: ENSP00000342012.3:p.Gly298Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.892G>A
  hgvsp: ENSP00000415277.1:p.Gly298Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+326G>A
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly298Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-36002340-T-TCTGCTGCCACCACTGTTGCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002340
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002361
    reference: chr 19
allele count: 1
allele frequency: 9.193880553103853e-6
allele num: 108768
alternate allele: TCTGCTGCCACCACTGTTGCCA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Ser290_Ser296dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Ser290_Ser296dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Ser290_Ser296dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Ser290_Ser296dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Ser290_Ser296dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Ser290_Ser296dup
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser290_Ser296dup
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-36002340-TCTGCTGCCACCACTGTTGCCACTGCTGCCACCACTGCTGCCGCCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002340
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002295
    reference: chr 19
allele count: 1
allele frequency: 9.193880553103853e-6
allele num: 108768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser282_Ser296del
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: TCTGCTGCCACCACTGTTGCCACTGCTGCCACCACTGCTGCCGCCA
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-36002340-TCTGCTGCCACCACTGTTGCCACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002340
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002268
    reference: chr 19
allele count: 3
allele frequency: 2.758164165931156e-5
allele num: 108768
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 59948
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8794
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4996
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.298701298701299e-3
  allele num: 770
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
reference allele: TCTGCTGCCACCACTGTTGCCACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-36002347-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002347
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002347
    reference: chr 19
allele count: 2
allele frequency: 1.866263553739059e-5
allele num: 107166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.884G>C
  hgvsp: ENSP00000388404.2:p.Gly295Ala
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.884G>C
  hgvsp: ENSP00000342012.3:p.Gly295Ala
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.884G>C
  hgvsp: ENSP00000394908.2:p.Gly295Ala
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.884G>C
  hgvsp: ENSP00000415277.1:p.Gly295Ala
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.884G>C
  hgvsp: ENSP00000414743.1:p.Gly295Ala
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+318G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+318G>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.884G>C
  hgvsp: ENSP00000409513.2:p.Gly295Ala
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly295Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

19-36002349-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002349
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002349
    reference: chr 19
allele count: 1
allele frequency: 9.484066767830045e-6
allele num: 105440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+316T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.882T>C
  hgvsp: ENST00000418261.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.882T>C
  hgvsp: ENST00000451297.2:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.882T>C
  hgvsp: ENST00000424570.2:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.882T>C
  hgvsp: ENST00000447113.2:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.882T>C
  hgvsp: ENST00000440396.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+316T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.882T>C
  hgvsp: ENST00000339686.3:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16898
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly294Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-36002349-ACCACTGTTGCCACTGCTGCCACCACTGCTGCCGCCACTGCTGCCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002349
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002304
    reference: chr 19
allele count: 1
allele frequency: 9.484066767830045e-6
allele num: 105440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Ser282_Ser296del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16898
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser282_Ser296del
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: ACCACTGTTGCCACTGCTGCCACCACTGCTGCCGCCACTGCTGCCG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

19-36002354-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002354
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002354
    reference: chr 19
allele count: 1
allele frequency: 9.621120283245781e-6
allele num: 103938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.877A>T
  hgvsp: ENSP00000394908.2:p.Ser293Cys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.877A>T
  hgvsp: ENSP00000415277.1:p.Ser293Cys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.877A>T
  hgvsp: ENSP00000388404.2:p.Ser293Cys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.877A>T
  hgvsp: ENSP00000409513.2:p.Ser293Cys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+311A>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+311A>T
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.877A>T
  hgvsp: ENSP00000342012.3:p.Ser293Cys
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.877A>T
  hgvsp: ENSP00000414743.1:p.Ser293Cys
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17190
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10312
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser293Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-36002356-TTGCCACTGCTGCCACCACTGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002356
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002335
    reference: chr 19
allele count: 4
allele frequency: 3.94345091389475e-5
allele num: 101434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Ser285_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Ser285_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Ser285_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Ser285_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Ser285_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Ser285_Gly291del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser285_Gly291del
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: TTGCCACTGCTGCCACCACTGC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-36002356-T-TTGCCATTGCTGCCACCACTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002356
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002377
    reference: chr 19
allele count: 2
allele frequency: 1.971725456947375e-5
allele num: 101434
alternate allele: TTGCCATTGCTGCCACCACTGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly291_Asn292insSerSerGlyGlySerAsnGly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-36002356-TTGCCACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002356
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002308
    reference: chr 19
allele count: 2
allele frequency: 1.971725456947375e-5
allele num: 101434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Ser276_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Ser276_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Ser276_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Ser276_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Ser276_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Ser276_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17246
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser276_Gly291del
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: TTGCCACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGC
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

19-36002357-TGCCACTGCTGCCACCACTGCTGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002357
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002333
    reference: chr 19
allele count: 10
allele frequency: 1.022055967784796e-4
allele num: 97842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16724
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Gly284_Gly291del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: TGCCACTGCTGCCACCACTGCTGCC
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-36002358-G-GCCACTGCTGCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002358
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
allele count: 4
allele frequency: 4.11598855755181e-5
allele num: 97182
alternate allele: GCCACTGCTGCCA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Gly288_Gly291dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Gly288_Gly291dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Gly288_Gly291dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Gly288_Gly291dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Gly288_Gly291dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Gly288_Gly291dup
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16735
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Gly288_Gly291dup
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-36002358-GCCACTGCTGCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002358
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002346
    reference: chr 19
allele count: 16
allele frequency: 1.646395423020724e-4
allele num: 97182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16735
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Gly288_Gly291del
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: GCCACTGCTGCCA
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-36002361-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002361
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002361
    reference: chr 19
allele count: 6
allele frequency: 6.19642672725395e-5
allele num: 96830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.870T>G
  hgvsp: ENSP00000415277.1:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+304T>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.870T>G
  hgvsp: ENSP00000409513.2:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.870T>G
  hgvsp: ENSP00000342012.3:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.870T>G
  hgvsp: ENSP00000388404.2:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.870T>G
  hgvsp: ENSP00000394908.2:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.870T>G
  hgvsp: ENSP00000414743.1:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+304T>G
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17751
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19280
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser290Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-36002361-ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002361
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002310
    reference: chr 19
allele count: 19860
allele frequency: 2.051017246721057e-1
allele num: 96830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Ser274_Ser290del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Ser274_Ser290del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Ser274_Ser290del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Ser274_Ser290del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Ser274_Ser290del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Ser274_Ser290del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 1.75e1
  variant carriers: 4767
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.75e1
  variant carriers: 1622
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 761
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 2.25e1
  variant carriers: 3188
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.5e0
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 7.5e0
  variant carriers: 1388
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 9.75e1
  variant carriers: 966
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 17751
  bin: 1.25e1
  variant carriers: 4243
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 19280
  bin: 9.75e1
  variant carriers: 17791
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 7.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 14207
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 6.25e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 28
hgvs: p.Ser274_Ser290del
num of homozygotes: 1942
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

19-36002366-T-TGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002366
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002369
    reference: chr 19
allele count: 1
allele frequency: 1.750332563187006e-5
allele num: 57132
alternate allele: TGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+296_735+298dupGGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.862_864dupGGC
  hgvsp: ENSP00000409513.2:p.Gly288dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.862_864dupGGC
  hgvsp: ENSP00000414743.1:p.Gly288dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.862_864dupGGC
  hgvsp: ENSP00000342012.3:p.Gly288dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.862_864dupGGC
  hgvsp: ENSP00000394908.2:p.Gly288dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.862_864dupGGC
  hgvsp: ENSP00000388404.2:p.Gly288dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.862_864dupGGC
  hgvsp: ENSP00000415277.1:p.Gly288dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+296_735+298dupGGC
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly288dup
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-36002367-GCCACCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002361
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 56268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+292_735+297delTGGTGG
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.858_863delTGGTGG
  hgvsp: ENSP00000409513.2:p.Gly287_Gly288del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+292_735+297delTGGTGG
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.858_863delTGGTGG
  hgvsp: ENSP00000394908.2:p.Gly287_Gly288del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.858_863delTGGTGG
  hgvsp: ENSP00000414743.1:p.Gly287_Gly288del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.858_863delTGGTGG
  hgvsp: ENSP00000388404.2:p.Gly287_Gly288del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.858_863delTGGTGG
  hgvsp: ENSP00000415277.1:p.Gly287_Gly288del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.858_863delTGGTGG
  hgvsp: ENSP00000342012.3:p.Gly287_Gly288del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly287_Gly288del
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GCCACCA
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-36002369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002369
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002369
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 53438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.862G>A
  hgvsp: ENSP00000342012.3:p.Gly288Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.862G>A
  hgvsp: ENSP00000388404.2:p.Gly288Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.862G>A
  hgvsp: ENSP00000415277.1:p.Gly288Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.862G>A
  hgvsp: ENSP00000394908.2:p.Gly288Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.862G>A
  hgvsp: ENSP00000414743.1:p.Gly288Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+296G>A
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.862G>A
  hgvsp: ENSP00000409513.2:p.Gly288Ser
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+296G>A
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly288Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/19-36002369-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002369
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002368
    reference: chr 19
allele count: 1
allele frequency: 1.871327519742505e-5
allele num: 53438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+295delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.861delT
  hgvsp: ENSP00000415277.1:p.Gly288AlafsTer70
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+295delT
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.861delT
  hgvsp: ENSP00000414743.1:p.Gly288AlafsTer89
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.861delT
  hgvsp: ENSP00000409513.2:p.Gly288AlafsTer72
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.861delT
  hgvsp: ENSP00000394908.2:p.Gly288AlafsTer70
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.861delT
  hgvsp: ENSP00000342012.3:p.Gly288AlafsTer89
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.861delT
  hgvsp: ENSP00000388404.2:p.Gly288AlafsTer70
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly288AlafsTer89
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: CA
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-36002370-A-ACCACTGCTGCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002382
    reference: chr 19
allele count: 220
allele frequency: 4.912907548012505e-3
allele num: 44780
alternate allele: ACCACTGCTGCCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Gly284_Gly287dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Gly284_Gly287dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Gly284_Gly287dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Gly284_Gly287dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Gly284_Gly287dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Gly284_Gly287dup
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 7.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 9.75e1
  variant carriers: 198
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 10300
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 6
hgvs: p.Gly284_Gly287dup
num of homozygotes: 3
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-36002370-A-ACCACTGCTGCCGCCACTGCTGCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002394
    reference: chr 19
allele count: 2
allele frequency: 4.466279589102278e-5
allele num: 44780
alternate allele: ACCACTGCTGCCGCCACTGCTGCTG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-36002370-A-ACCACTGCTGCTGCCACTGCTGCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002394
    reference: chr 19
allele count: 134
allele frequency: 2.992407324698526e-3
allele num: 44780
alternate allele: ACCACTGCTGCTGCCACTGCTGCTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6144
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 4
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

19-36002370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
allele count: 108
allele frequency: 2.41179097811523e-3
allele num: 44780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.861T>C
  hgvsp: ENST00000418261.1:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+295T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.861T>C
  hgvsp: ENST00000440396.1:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.861T>C
  hgvsp: ENST00000424570.2:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.861T>C
  hgvsp: ENST00000339686.3:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+295T>C
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.861T>C
  hgvsp: ENST00000451297.2:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.861T>C
  hgvsp: ENST00000447113.2:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Gly287Gly
num of homozygotes: 2
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-36002370-ACCACTGCTGCCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002358
    reference: chr 19
allele count: 401
allele frequency: 8.954890576150067e-3
allele num: 44780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Gly288_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 7.5e0
  variant carriers: 509
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.5e0
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 6.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.5e0
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 6144
  bin: 2.5e0
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 65
hgvs: p.Gly288_Gly291del
num of homozygotes: 5
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: ACCACTGCTGCCG
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

19-36002370-ACCACTGCTGCCGCCACTGCTGCCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002346
    reference: chr 19
allele count: 483
allele frequency: 1.0786065207682e-2
allele num: 44780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsp: ENSP00000414743.1:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsp: ENSP00000394908.2:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsp: ENSP00000388404.2:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsp: ENSP00000409513.2:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsp: ENSP00000415277.1:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsp: ENSP00000342012.3:p.Gly284_Gly291del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 7.5e0
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 1.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 10300
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 6144
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 15
hgvs: p.Gly284_Gly291del
num of homozygotes: 8
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: ACCACTGCTGCCGCCACTGCTGCCG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-36002375-TGCTGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002375
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002369
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 42964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.850_855delGGCAGC
  hgvsp: ENSP00000394908.2:p.Gly284_Ser285del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+284_735+289delGGCAGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.850_855delGGCAGC
  hgvsp: ENSP00000342012.3:p.Gly284_Ser285del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.850_855delGGCAGC
  hgvsp: ENSP00000388404.2:p.Gly284_Ser285del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+284_735+289delGGCAGC
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.850_855delGGCAGC
  hgvsp: ENSP00000409513.2:p.Gly284_Ser285del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.850_855delGGCAGC
  hgvsp: ENSP00000414743.1:p.Gly284_Ser285del
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.850_855delGGCAGC
  hgvsp: ENSP00000415277.1:p.Gly284_Ser285del
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly284_Ser285del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: TGCTGCC
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-36002376-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36002376
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36002376
    reference: chr 19
allele count: 1
allele frequency: 2.44140625e-5
allele num: 40960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000405503
  ensembl transcript: ENST00000429837
  gene symbol: DMKN
  hgvsc: ENST00000429837.1:c.735+289C>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000388404
  ensembl transcript: ENST00000424570
  gene symbol: DMKN
  hgvsc: ENST00000424570.2:c.855C>G
  hgvsp: ENSP00000388404.2:p.Ser285Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000415277
  ensembl transcript: ENST00000440396
  gene symbol: DMKN
  hgvsc: ENST00000440396.1:c.855C>G
  hgvsp: ENSP00000415277.1:p.Ser285Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000414743
  ensembl transcript: ENST00000418261
  gene symbol: DMKN
  hgvsc: ENST00000418261.1:c.855C>G
  hgvsp: ENSP00000414743.1:p.Ser285Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000394908
  ensembl transcript: ENST00000447113
  gene symbol: DMKN
  hgvsc: ENST00000447113.2:c.855C>G
  hgvsp: ENSP00000394908.2:p.Ser285Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000391036
  ensembl transcript: ENST00000419602
  gene symbol: DMKN
  hgvsc: ENST00000419602.1:c.735+289C>G
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000409513
  ensembl transcript: ENST00000451297
  gene symbol: DMKN
  hgvsc: ENST00000451297.2:c.855C>G
  hgvsp: ENSP00000409513.2:p.Ser285Arg
  variant of: http://identifiers.org/hgnc/25063
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161249
  ensembl protein: ENSP00000342012
  ensembl transcript: ENST00000339686
  gene symbol: DMKN
  hgvsc: ENST00000339686.3:c.855C>G
  hgvsp: ENSP00000342012.3:p.Ser285Arg
  variant of: http://identifiers.org/hgnc/25063
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ser285Arg
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.46-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473296
ensembl transcript: ENST00000602679
gene symbol: DMKN
hgvsc: ENST00000602679.1:c.-151delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.58-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.*85delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-151delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.62-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.58-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-90-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.58-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000392222
ensembl transcript: ENST00000414866
gene symbol: DMKN
hgvsc: ENST00000414866.2:c.58-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.58-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.58-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.50-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.58-10delT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-10delT
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 14581
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25551
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1278
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7278
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1371
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3784
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5262
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 477
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35165
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5640
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.266479388515058e-5
allele num: 30614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

MQ
type: SiteQuality
SIO_000300: 5.652e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.951e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

DP
type: SiteQuality
SIO_000300: 7.77814e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.101-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471288
ensembl transcript: ENST00000460051
gene symbol: DMKN
hgvsc: ENST00000460051.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.46-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000392222
ensembl transcript: ENST00000414866
gene symbol: DMKN
hgvsc: ENST00000414866.2:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.162C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473296
ensembl transcript: ENST00000602679
gene symbol: DMKN
hgvsc: ENST00000602679.1:c.-168C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-90-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000472065
gene symbol: DMKN
hgvsc: ENST00000472065.1:n.88-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.50-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.58-27C>T
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21853
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5470
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3376
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13950
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11889
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 872
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1382
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 470
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27502
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15009
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.28e0

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 3.522e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

DP
type: SiteQuality
SIO_000300: 6.8152e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-172A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000472065
gene symbol: DMKN
hgvsc: ENST00000472065.1:n.88-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.49-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471288
ensembl transcript: ENST00000460051
gene symbol: DMKN
hgvsc: ENST00000460051.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.101-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000465927
gene symbol: DMKN
hgvsc: ENST00000465927.1:n.116A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.58-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-90-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.58-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.58-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.62-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.58-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.58-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.58-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.50-31A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.46-31A>G
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 17225
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10347
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 716
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20314
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3287
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1393
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5344
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18387
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 846
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22290
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.834355828220859e-4
allele num: 2608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2822
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.5178e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.496e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474419
ensembl transcript: ENST00000492341
gene symbol: DMKN
hgvsc: ENST00000492341.2:c.-123G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.156G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.62-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.101-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470425
ensembl transcript: ENST00000490622
gene symbol: DMKN
hgvsc: ENST00000490622.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.50-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473526
ensembl transcript: ENST00000602781
gene symbol: DMKN
hgvsc: ENST00000602781.1:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.58-33G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-33G>A
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18621
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 484
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1380
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22225
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6932
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5261
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3190
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16880
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.47e-2

DP
type: SiteQuality
SIO_000300: 6.01174e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.051e0

QD
type: SiteQuality
SIO_000300: 1.026e1

MQRankSum
type: SiteQuality
SIO_000300: -1.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 4.55e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.101-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.*57C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473526
ensembl transcript: ENST00000602781
gene symbol: DMKN
hgvsc: ENST00000602781.1:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472344
ensembl transcript: ENST00000476246
gene symbol: DMKN
hgvsc: ENST00000476246.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000392222
ensembl transcript: ENST00000414866
gene symbol: DMKN
hgvsc: ENST00000414866.2:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.46-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-90-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470425
ensembl transcript: ENST00000490622
gene symbol: DMKN
hgvsc: ENST00000490622.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.49-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.50-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-38C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.58-38C>T
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1374
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3193
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18628
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5286
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23182
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5997
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17967
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.57e-2

FS
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.056999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

DP
type: SiteQuality
SIO_000300: 5.91146e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.*45C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.101-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474419
ensembl transcript: ENST00000492341
gene symbol: DMKN
hgvsc: ENST00000492341.2:c.-140C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-191C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472344
ensembl transcript: ENST00000476246
gene symbol: DMKN
hgvsc: ENST00000476246.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.62-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000392222
ensembl transcript: ENST00000414866
gene symbol: DMKN
hgvsc: ENST00000414866.2:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.49-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473526
ensembl transcript: ENST00000602781
gene symbol: DMKN
hgvsc: ENST00000602781.1:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.46-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.50-50C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.58-50C>T
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13956
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3536
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1364
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5284
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3152
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29243
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29921
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.410800385728062e-4
allele num: 8296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.489e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.392e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.268e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.983e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.825e0

DP
type: SiteQuality
SIO_000300: 5.37995e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.61e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470425
ensembl transcript: ENST00000490622
gene symbol: DMKN
hgvsc: ENST00000490622.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000498269
gene symbol: DMKN
hgvsc: ENST00000498269.1:n.86G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.101-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000392222
ensembl transcript: ENST00000414866
gene symbol: DMKN
hgvsc: ENST00000414866.2:c.58-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.58-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.58-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.58-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.58-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.49-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.*43G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.46-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472344
ensembl transcript: ENST00000476246
gene symbol: DMKN
hgvsc: ENST00000476246.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000472065
gene symbol: DMKN
hgvsc: ENST00000472065.1:n.88-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.62-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.58-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.58-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471288
ensembl transcript: ENST00000460051
gene symbol: DMKN
hgvsc: ENST00000460051.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.50-52G>A
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 31567
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5261
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3129
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2461
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11491
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31494
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5996
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.22e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.10472e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

QD
type: SiteQuality
SIO_000300: 1.151e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-67_919-66delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473296
ensembl transcript: ENST00000602679
gene symbol: DMKN
hgvsc: ENST00000602679.1:c.-208_-207delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471288
ensembl transcript: ENST00000460051
gene symbol: DMKN
hgvsc: ENST00000460051.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-91+60_-91+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-67_919-66delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470425
ensembl transcript: ENST00000490622
gene symbol: DMKN
hgvsc: ENST00000490622.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000465927
gene symbol: DMKN
hgvsc: ENST00000465927.1:n.80_81delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-67_28-66delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.57+52_57+53delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.45+60_45+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000498269
gene symbol: DMKN
hgvsc: ENST00000498269.1:n.71_72delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.49+60_49+61delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-67_919-66delGC
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.61+52_61+53delGC
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1347
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8040
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3143
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33868
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5354
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1346
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6189
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33348
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.030160736861116e-5
allele num: 11074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.589e0

MQ
type: SiteQuality
SIO_000300: 5.395e1

DP
type: SiteQuality
SIO_000300: 4.77944e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 2.97e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.61+49_61+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.57+49_57+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474098
ensembl transcript: ENST00000461300
gene symbol: DMKN
hgvsc: ENST00000461300.1:c.-160_-159insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.119_120insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-91+57_-91+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.57+49_57+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-70_919-69insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.48+49_48+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.57+49_57+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.57+49_57+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-70_919-69insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.57+49_57+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-70_919-69insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-70_919-69insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000392222
ensembl transcript: ENST00000414866
gene symbol: DMKN
hgvsc: ENST00000414866.2:c.57+49_57+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.100+49_100+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.45+57_45+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-70_736-69insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.49+57_49+58insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-70_28-69insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.57+49_57+50insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-70_736-69insGT
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-70_919-69insGT
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34197
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1145
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5376
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6875
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3136
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1349
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33428
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.266123054114158e-5
allele num: 10792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

MQRankSum
type: SiteQuality
SIO_000300: -2.589e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.87e0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.034e0

MQ
type: SiteQuality
SIO_000300: 5.395e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 4.67434e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.100+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.28-79A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474098
ensembl transcript: ENST00000461300
gene symbol: DMKN
hgvsc: ENST00000461300.1:c.-169A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.61+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-79A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.57+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-79A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-79A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.57+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-91+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.57+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-79A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.45+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.57+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.57+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.57+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.48+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000498269
gene symbol: DMKN
hgvsc: ENST00000498269.1:n.59A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.49+48A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.57+40A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-79A>G
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 1345
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5456
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 743
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33461
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4514
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32352
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 506
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.073e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

DP
type: SiteQuality
SIO_000300: 4.4357e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.38_39delAA
hgvsp: ENSP00000469824.1:p.Lys13ArgfsTer74
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.38_39delAA
hgvsp: ENSP00000470881.1:p.Lys13ArgfsTer74
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472344
ensembl transcript: ENST00000476246
gene symbol: DMKN
hgvsc: ENST00000476246.1:c.38_39delAA
hgvsp: ENSP00000472344.1:p.Lys13ArgfsTer74
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.38_39delAA
hgvsp: ENSP00000476043.1:p.Lys13ArgfsTer58
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.38_39delAA
hgvsp: ENSP00000384509.2:p.Lys13ArgfsTer27
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.38_39delAA
hgvsp: ENSP00000470033.1:p.Lys13ArgfsTer41
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.51_52delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474419
ensembl transcript: ENST00000492341
gene symbol: DMKN
hgvsc: ENST00000492341.2:c.-228_-227delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.38_39delAA
hgvsp: ENSP00000471451.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.81_82delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-138_919-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.38_39delAA
hgvsp: ENSP00000472349.1:p.Lys13ArgfsTer27
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-138_919-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-138_919-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.38_39delAA
hgvsp: ENSP00000471670.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000498269
gene symbol: DMKN
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.34_35delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.38_39delAA
hgvsp: ENSP00000376042.2:p.Lys13ArgfsTer27
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000472065
gene symbol: DMKN
hgvsc: ENST00000472065.1:n.68_69delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.38_39delAA
hgvsp: ENSP00000468987.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.38_39delAA
hgvsp: ENSP00000406864.1:p.Lys13ArgfsTer27
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-138_919-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.38_39delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.38_39delAA
hgvsp: ENSP00000469923.1:p.Lys13ArgfsTer64
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.29_30delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.38_39delAA
hgvsp: ENSP00000474992.2:p.Lys13ArgfsTer22
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.38_39delAA
hgvsp: ENSP00000473191.1:p.Lys13ArgfsTer27
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-138_919-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-138_736-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-138_736-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-138_919-137delAA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.38_39delAA
hgvsp: ENSP00000472262.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 1343
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5538
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 631
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13598
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3157
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12404
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1027
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 654
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.146e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.29e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.6061e5

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472344
ensembl transcript: ENST00000476246
gene symbol: DMKN
hgvsc: ENST00000476246.1:c.39A>G
hgvsp: ENST00000476246.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.39A>G
hgvsp: ENST00000470746.2:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.39A>G
hgvsp: ENST00000462721.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-137A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.39A>G
hgvsp: ENST00000498211.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.39A>G
hgvsp: ENST00000464894.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.39A>G
hgvsp: ENST00000467532.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.39A>G
hgvsp: ENST00000462538.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-101A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.82A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000472065
gene symbol: DMKN
hgvsc: ENST00000472065.1:n.69A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.35A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-278A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.39A>G
hgvsp: ENST00000488892.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.39A>G
hgvsp: ENST00000436012.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.43A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.39A>G
hgvsp: ENST00000480507.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474098
ensembl transcript: ENST00000461300
gene symbol: DMKN
hgvsc: ENST00000461300.1:c.-227A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.39A>G
hgvsp: ENST00000402589.2:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.27+94A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.39A>G
hgvsp: ENST00000443640.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.39A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.52A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-137A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-137A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.39A>G
hgvsp: ENST00000450261.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000465927
gene symbol: DMKN
hgvsc: ENST00000465927.1:n.10A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-137A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470425
ensembl transcript: ENST00000490622
gene symbol: DMKN
hgvsc: ENST00000490622.1:c.39A>G
hgvsp: ENST00000490622.1:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-137A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-137A>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.39A>G
hgvsp: ENST00000488542.2:c.39A>G(p.%3D)
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3155
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1344
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12939
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5531
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11642
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

DP
type: SiteQuality
SIO_000300: 3.5872e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 5.92e0

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.36_37delTA
hgvsp: ENSP00000468840.1:p.Lys13ArgfsTer74
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.36_37delTA
hgvsp: ENSP00000469845.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.36_37delTA
hgvsp: ENSP00000476043.1:p.Lys13ArgfsTer58
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471288
ensembl transcript: ENST00000460051
gene symbol: DMKN
hgvsc: ENST00000460051.1:c.36_37delTA
hgvsp: ENSP00000471288.1:p.Lys13ArgfsTer64
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.36_37delTA
hgvsp: ENSP00000469824.1:p.Lys13ArgfsTer74
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.36_37delTA
hgvsp: ENSP00000471451.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-140_919-139delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.36_37delTA
hgvsp: ENSP00000384509.2:p.Lys13ArgfsTer27
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.36_37delTA
hgvsp: ENSP00000474992.2:p.Lys13ArgfsTer22
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-140_736-139delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.36_37delTA
hgvsp: ENSP00000468987.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000472065
gene symbol: DMKN
hgvsc: ENST00000472065.1:n.66_67delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.27_28delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.36_37delTA
hgvsp: ENSP00000470510.1:p.Lys13ArgfsTer57
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.36_37delTA
hgvsp: ENSP00000472127.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000465927
gene symbol: DMKN
hgvsc: ENST00000465927.1:n.7_8delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474419
ensembl transcript: ENST00000492341
gene symbol: DMKN
hgvsc: ENST00000492341.2:c.-230_-229delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-104_-103delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-140_919-139delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.32_33delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.40_41delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-140_919-139delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-140_919-139delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.36_37delTA
hgvsp: ENSP00000472262.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.36_37delTA
hgvsp: ENSP00000471670.1:p.Lys13ArgfsTer55
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.49_50delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.36_37delTA
hgvsp: ENSP00000470881.1:p.Lys13ArgfsTer74
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.36_37delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-140_919-139delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-281_-280delTA
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.27+91_27+92delTA
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 605
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1344
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12997
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5535
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11844
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.58866e5

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQ
type: SiteQuality
SIO_000300: 4.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

QD
type: SiteQuality
SIO_000300: 5.92e0

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.27C>T
hgvsp: ENST00000463292.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469824
ensembl transcript: ENST00000493517
gene symbol: DMKN
hgvsc: ENST00000493517.1:c.27C>T
hgvsp: ENST00000493517.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000397005
ensembl transcript: ENST00000450261
gene symbol: DMKN
hgvsc: ENST00000450261.1:c.27C>T
hgvsp: ENST00000450261.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-149C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-149C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.27C>T
hgvsp: ENST00000462538.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.23C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.27C>T
hgvsp: ENST00000498593.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.27C>T
hgvsp: ENST00000488542.2:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472344
ensembl transcript: ENST00000476246
gene symbol: DMKN
hgvsc: ENST00000476246.1:c.27C>T
hgvsp: ENST00000476246.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.27C>T
hgvsp: ENST00000402589.2:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.70C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.31C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471288
ensembl transcript: ENST00000460051
gene symbol: DMKN
hgvsc: ENST00000460051.1:c.27C>T
hgvsp: ENST00000460051.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.27C>T
hgvsp: ENST00000458071.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.27C>T
hgvsp: ENST00000480502.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.27C>T
hgvsp: ENST00000483855.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.27C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-149C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-149C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-149C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.18C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.27C>T
hgvsp: ENST00000467637.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474098
ensembl transcript: ENST00000461300
gene symbol: DMKN
hgvsc: ENST00000461300.1:c.-239C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.27C>T
hgvsp: ENST00000480507.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.40C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.27+82C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-149C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470425
ensembl transcript: ENST00000490622
gene symbol: DMKN
hgvsc: ENST00000490622.1:c.27C>T
hgvsp: ENST00000490622.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.27C>T
hgvsp: ENST00000443640.1:c.27C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5466
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1341
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9669
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3140
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8700
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.904e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.094e0

DP
type: SiteQuality
SIO_000300: 3.49688e5

FS
type: SiteQuality
SIO_000300: 4.036e0

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-298T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473526
ensembl transcript: ENST00000602781
gene symbol: DMKN
hgvsc: ENST00000602781.1:c.19T>C
hgvsp: ENSP00000473526.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470425
ensembl transcript: ENST00000490622
gene symbol: DMKN
hgvsc: ENST00000490622.1:c.19T>C
hgvsp: ENSP00000470425.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.19T>C
hgvsp: ENSP00000468840.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.15T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.19T>C
hgvsp: ENSP00000472127.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-157T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471288
ensembl transcript: ENST00000460051
gene symbol: DMKN
hgvsc: ENST00000460051.1:c.19T>C
hgvsp: ENSP00000471288.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-121T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-157T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.19T>C
hgvsp: ENSP00000469845.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.19T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.19T>C
hgvsp: ENSP00000469923.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474419
ensembl transcript: ENST00000492341
gene symbol: DMKN
hgvsc: ENST00000492341.2:c.-247T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.10T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-157T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.23T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471451
ensembl transcript: ENST00000464709
gene symbol: DMKN
hgvsc: ENST00000464709.2:c.19T>C
hgvsp: ENSP00000471451.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-157T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474098
ensembl transcript: ENST00000461300
gene symbol: DMKN
hgvsc: ENST00000461300.1:c.-247T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.27+74T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.19T>C
hgvsp: ENSP00000470881.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.19T>C
hgvsp: ENSP00000476043.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.19T>C
hgvsp: ENSP00000472262.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-157T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000403957
ensembl transcript: ENST00000458071
gene symbol: DMKN
hgvsc: ENST00000458071.1:c.19T>C
hgvsp: ENSP00000403957.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-157T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.19T>C
hgvsp: ENSP00000412075.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.19T>C
hgvsp: ENSP00000376042.2:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.19T>C
hgvsp: ENSP00000472349.1:p.Cys7Arg
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 3138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5425
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1335
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 484
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8522
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7752
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.001803245842517e-4
allele num: 9982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 2.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 3.46022e5

VQSLOD
type: SiteQuality
SIO_000300: -8.458e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.60C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474992
ensembl transcript: ENST00000488542
gene symbol: DMKN
hgvsc: ENST00000488542.2:c.17C>T
hgvsp: ENSP00000474992.2:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.17C>T
hgvsp: ENSP00000470033.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.17C>T
hgvsp: ENSP00000470881.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474098
ensembl transcript: ENST00000461300
gene symbol: DMKN
hgvsc: ENST00000461300.1:c.-249C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.17C>T
hgvsp: ENSP00000476043.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-159C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000414743
ensembl transcript: ENST00000418261
gene symbol: DMKN
hgvsc: ENST00000418261.1:c.919-159C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-159C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470775
ensembl transcript: ENST00000480507
gene symbol: DMKN
hgvsc: ENST00000480507.1:c.17C>T
hgvsp: ENSP00000470775.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469845
ensembl transcript: ENST00000464894
gene symbol: DMKN
hgvsc: ENST00000464894.1:c.17C>T
hgvsp: ENSP00000469845.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-300C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471112
ensembl transcript: ENST00000467637
gene symbol: DMKN
hgvsc: ENST00000467637.1:c.17C>T
hgvsp: ENSP00000471112.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.21C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.17C>T
hgvsp: ENSP00000470510.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.17C>T
hgvsp: ENSP00000376042.2:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.30C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-159C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473341
ensembl transcript: ENST00000472252
gene symbol: DMKN
hgvsc: ENST00000472252.2:c.-123C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000384509
ensembl transcript: ENST00000402589
gene symbol: DMKN
hgvsc: ENST00000402589.2:c.17C>T
hgvsp: ENSP00000384509.2:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.27+72C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-159C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.17C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.17C>T
hgvsp: ENSP00000472127.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.8C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.17C>T
hgvsp: ENSP00000469923.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.17C>T
hgvsp: ENSP00000473191.1:p.Ser6Phe
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-159C>T
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000474992
gene symbol: DMKN
hgvsc: ENST00000474992.1:n.13C>T
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 8138
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 304
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 21

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 484
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 450
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3119
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1332
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5404
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7447
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 646
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.002004008016032e-4
allele num: 9980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.696428571428571e-3
allele num: 448
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 1.593625498007968e-2
allele num: 2510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

DP
type: SiteQuality
SIO_000300: 3.47935e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470033
ensembl transcript: ENST00000488762
gene symbol: DMKN
hgvsc: ENST00000488762.1:c.11T>A
hgvsp: ENSP00000470033.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468987
ensembl transcript: ENST00000498211
gene symbol: DMKN
hgvsc: ENST00000498211.1:c.11T>A
hgvsp: ENSP00000468987.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.11T>A
hgvsp: ENSP00000469923.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.11T>A
hgvsp: ENSP00000473191.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000471670
ensembl transcript: ENST00000493979
gene symbol: DMKN
hgvsc: ENST00000493979.1:c.11T>A
hgvsp: ENSP00000471670.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.11T>A
hgvsp: ENSP00000468840.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000471786
gene symbol: DMKN
hgvsc: ENST00000471786.2:n.11T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000476043
ensembl transcript: ENST00000470746
gene symbol: DMKN
hgvsc: ENST00000470746.2:c.11T>A
hgvsp: ENSP00000476043.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.27+66T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000486450
gene symbol: DMKN
hgvsc: ENST00000486450.1:n.15T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000412075
ensembl transcript: ENST00000436012
gene symbol: DMKN
hgvsc: ENST00000436012.1:c.11T>A
hgvsp: ENSP00000412075.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000472065
gene symbol: DMKN
hgvsc: ENST00000472065.1:n.41T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-165T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.11T>A
hgvsp: ENSP00000376042.2:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.24T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474098
ensembl transcript: ENST00000461300
gene symbol: DMKN
hgvsc: ENST00000461300.1:c.-255T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-165T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000388404
ensembl transcript: ENST00000424570
gene symbol: DMKN
hgvsc: ENST00000424570.2:c.919-165T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472262
ensembl transcript: ENST00000462538
gene symbol: DMKN
hgvsc: ENST00000462538.1:c.11T>A
hgvsp: ENSP00000472262.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472127
ensembl transcript: ENST00000483855
gene symbol: DMKN
hgvsc: ENST00000483855.1:c.11T>A
hgvsp: ENSP00000472127.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470881
ensembl transcript: ENST00000462721
gene symbol: DMKN
hgvsc: ENST00000462721.1:c.11T>A
hgvsp: ENSP00000470881.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473526
ensembl transcript: ENST00000602781
gene symbol: DMKN
hgvsc: ENST00000602781.1:c.11T>A
hgvsp: ENSP00000473526.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000470857
gene symbol: DMKN
hgvsc: ENST00000470857.1:n.2T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.11T>A
hgvsp: ENSP00000472349.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000405503
ensembl transcript: ENST00000429837
gene symbol: DMKN
hgvsc: ENST00000429837.1:c.736-165T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472344
ensembl transcript: ENST00000476246
gene symbol: DMKN
hgvsc: ENST00000476246.1:c.11T>A
hgvsp: ENSP00000472344.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000470510
ensembl transcript: ENST00000467532
gene symbol: DMKN
hgvsc: ENST00000467532.1:c.11T>A
hgvsp: ENSP00000470510.1:p.Ile4Lys
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-165T>A
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000474123
ensembl transcript: ENST00000474928
gene symbol: DMKN
hgvsc: ENST00000474928.1:c.-306T>A
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 12
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3106
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6813
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5362
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1333
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.006420545746388e-4
allele num: 9968
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.54e-2

FS
type: SiteQuality
SIO_000300: 2.166e0

VQSLOD
type: SiteQuality
SIO_000300: -2.566e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.41901e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000468840
ensembl transcript: ENST00000463292
gene symbol: DMKN
hgvsc: ENST00000463292.1:c.-11T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000406864
ensembl transcript: ENST00000443640
gene symbol: DMKN
hgvsc: ENST00000443640.1:c.-11T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000394908
ensembl transcript: ENST00000447113
gene symbol: DMKN
hgvsc: ENST00000447113.2:c.919-186T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000342012
ensembl transcript: ENST00000339686
gene symbol: DMKN
hgvsc: ENST00000339686.3:c.919-186T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000476051
gene symbol: DMKN
hgvsc: ENST00000476051.1:n.3T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000473191
ensembl transcript: ENST00000488892
gene symbol: DMKN
hgvsc: ENST00000488892.1:c.-11T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000462126
gene symbol: DMKN
hgvsc: ENST00000462126.1:n.27+45T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000469923
ensembl transcript: ENST00000498593
gene symbol: DMKN
hgvsc: ENST00000498593.1:c.-11T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-186T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000472349
ensembl transcript: ENST00000480502
gene symbol: DMKN
hgvsc: ENST00000480502.1:c.-11T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-186T>G
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.33T>G
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1311
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4530
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 3035
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5205
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1574
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.464e1

DP
type: SiteQuality
SIO_000300: 3.32891e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.065e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-213G>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000376042
ensembl transcript: ENST00000392206
gene symbol: DMKN
hgvsc: ENST00000392206.2:c.-38G>C
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 1287
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2844
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3520
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 501
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4952
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 4.258943781942078e-4
allele num: 2348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 1.833e1

DP
type: SiteQuality
SIO_000300: 3.24055e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.48e-2

FS
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.127e0

VQSLOD
type: SiteQuality
SIO_000300: -2.513e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000409513
ensembl transcript: ENST00000451297
gene symbol: DMKN
hgvsc: ENST00000451297.2:c.919-216T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000391036
ensembl transcript: ENST00000419602
gene symbol: DMKN
hgvsc: ENST00000419602.1:c.736-216T>C
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 563
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3488
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2786
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4959
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5388
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1900
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.044059302568386e-4
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e0

DP
type: SiteQuality
SIO_000300: 3.23077e5

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 2.032e0

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000161249
ensembl protein: ENSP00000415277
ensembl transcript: ENST00000440396
gene symbol: DMKN
hgvsc: ENST00000440396.1:c.919-217T>C
variant of: http://identifiers.org/hgnc/25063

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000161249
ensembl transcript: ENST00000482321
gene symbol: DMKN
hgvsc: ENST00000482321.1:n.2T>C
variant of: http://identifiers.org/hgnc/25063

GenotypeDepth
all individuals: 2787
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 148
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4953
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3514
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1282
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1040
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 8.605851979345956e-4
allele num: 2324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.805e1

QD
type: SiteQuality
SIO_000300: 1.342e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.554e0

DP
type: SiteQuality
SIO_000300: 3.23192e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.515e0

DP
type: SiteQuality
SIO_000300: 1.77483e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.871e0

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517220452131695e-5
allele num: 65910
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

VQSLOD
type: SiteQuality
SIO_000300: -2.193e0

FS
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.871e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: -1.515e0

QD
type: SiteQuality
SIO_000300: 1.018e1

DP
type: SiteQuality
SIO_000300: 1.77483e6

GenotypeQuality
all individuals: 574
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1251
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.069618524475737e-5
allele num: 65902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 1.774269e6

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 9.75e1
variant carriers: 176

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2399
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 151
allele frequency: 2.29128099298959e-3
allele num: 65902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.088015307009915e-4
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.094745222929936e-3
allele num: 10048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.07958050586058e-3
allele num: 6484
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.454e0

QD
type: SiteQuality
SIO_000300: 1.081e1

DP
type: SiteQuality
SIO_000300: 1.776255e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.847e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10241
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.765711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.253e0

FS
type: SiteQuality
SIO_000300: 1.083e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -1.225e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528164063693878e-5
allele num: 65438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

DP
type: SiteQuality
SIO_000300: 1.740185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.361e0

VQSLOD
type: SiteQuality
SIO_000300: -1.009e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580178244105935e-5
allele num: 63284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.377e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.335e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

DP
type: SiteQuality
SIO_000300: 1.585896e6

GenotypeQuality
all individuals: 26186
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 345
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.208624783417827e-5
allele num: 62332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 2.802e0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

DP
type: SiteQuality
SIO_000300: 1.503133e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612331108316404e-5
allele num: 62022
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21153380179307e-4
allele num: 8254
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.310740880979428e-5
allele num: 15846
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.161227577263886e-4
allele num: 9254
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: 1
allele frequency: 9.267840593141798e-5
allele num: 10790
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2919e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.764e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.102e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.482295e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

GenotypeQuality
all individuals: 3487
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 322
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.293156820127774e-5
allele num: 60732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.377319e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.09e0

GenotypeQuality
all individuals: 1049
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.670285618840822e-5
allele num: 59870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.182453077258839e-4
allele num: 4582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.839e1

VQSLOD
type: SiteQuality
SIO_000300: -1.911e0

FS
type: SiteQuality
SIO_000300: 1.1963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

QD
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 1.358355e6

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6628421297682e-5
allele num: 60138
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.135847342117219e-4
allele num: 8804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15688
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

FS
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

QD
type: SiteQuality
SIO_000300: 3.126e1

DP
type: SiteQuality
SIO_000300: 1.342075e6

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.549e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

GenotypeQuality
all individuals: 1481
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14593
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3965
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59948
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.235177865612648e-4
allele num: 8096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.598e0

VQSLOD
type: SiteQuality
SIO_000300: -3.877e-1

MQ
type: SiteQuality
SIO_000300: 5.425e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

DP
type: SiteQuality
SIO_000300: 1.329888e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 4.342e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 6.7e-1

GenotypeQuality
all individuals: 3839
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.137138958380714e-4
allele num: 8794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59948
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.877e-1

MQ
type: SiteQuality
SIO_000300: 5.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

DP
type: SiteQuality
SIO_000300: 1.329888e6

QD
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.598e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 4.342e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.470355731225296e-4
allele num: 8096
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.598e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.877e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

MQ
type: SiteQuality
SIO_000300: 5.425e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 4.342e0

QD
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.329888e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
all individuals: 4497
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14878
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.383751226609819e-5
allele num: 59106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 1.263842e6

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

GenotypeQuality
all individuals: 5119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4733
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715854495538778e-5
allele num: 58280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

DP
type: SiteQuality
SIO_000300: 1.240027e6

QD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.002e1

VQSLOD
type: SiteQuality
SIO_000300: -1.791e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 5.566e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

GenotypeQuality
all individuals: 1289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4733
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.459948320413436e-5
allele num: 15480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58280
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 5.566e1

DP
type: SiteQuality
SIO_000300: 1.240027e6

FS
type: SiteQuality
SIO_000300: 1.002e1

VQSLOD
type: SiteQuality
SIO_000300: -1.791e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

QD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

GenotypeQuality
all individuals: 1426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5489
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4903
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17486
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.498570314530803e-5
allele num: 15388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 1.200144e6

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.972e1

GenotypeQuality
all individuals: 1903
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9133
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.572704537334762e-5
allele num: 55980
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.327668613913967e-4
allele num: 7532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.011531458628363e-4
allele num: 9886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.294e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 5.491e1

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

QD
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.190662e6

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5529
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9133
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.572704537334762e-5
allele num: 55980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.294e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

DP
type: SiteQuality
SIO_000300: 1.190662e6

MQ
type: SiteQuality
SIO_000300: 5.491e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

QD
type: SiteQuality
SIO_000300: 8.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1903
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.023062917256727e-4
allele num: 9886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55980
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.190662e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.294e-1

MQ
type: SiteQuality
SIO_000300: 5.491e1

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

GenotypeQuality
all individuals: 2253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2283
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6458
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.988300983780909e-4
allele num: 7522
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.332977872567315e-4
allele num: 15004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.859703935133527e-5
allele num: 53772
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.176237210273544e-4
allele num: 9578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.2717e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.366e0

QD
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 1.1695e6

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 948
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 2
allele frequency: 2.694691457828079e-4
allele num: 7422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.68002672010688e-5
allele num: 14970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.87125748502994e-5
allele num: 53440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.168187e6

VQSLOD
type: SiteQuality
SIO_000300: -8.822e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 2.702e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 1710
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2292
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4110
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 957
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2647
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6510
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.48502994011976e-5
allele num: 53440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.008016032064128e-4
allele num: 14970
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.894649751792609e-4
allele num: 7252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.347345728914039e-4
allele num: 7422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.702e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.822e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

DP
type: SiteQuality
SIO_000300: 1.168187e6

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 3489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 8.578781812982557e-4
allele num: 6994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.64e-2

MQ
type: SiteQuality
SIO_000300: 5.63e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.272e0

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

FS
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.256725e6

GenotypeQuality
all individuals: 630
bin: 4.25e1
variant carriers: 53

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 122

GenotypeQuality
all individuals: 3214
bin: 3.25e1
variant carriers: 37

GenotypeQuality
all individuals: 1386
bin: 2.5e0
variant carriers: 29

GenotypeQuality
all individuals: 1750
bin: 3.75e1
variant carriers: 39

GenotypeQuality
all individuals: 364
bin: 5.25e1
variant carriers: 74

GenotypeQuality
all individuals: 1008
bin: 1.75e1
variant carriers: 23

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 180

GenotypeQuality
all individuals: 600
bin: 4.75e1
variant carriers: 55

GenotypeQuality
all individuals: 1474
bin: 6.75e1
variant carriers: 136

GenotypeQuality
all individuals: 630
bin: 7.25e1
variant carriers: 158

European (Non-Finnish)
type: Population
allele count: 8577
allele frequency: 1.595364755775455e-1
allele num: 53762
num of homozygotes: 540

African
type: Population
allele count: 1023
allele frequency: 1.385427952329361e-1
allele num: 7384
num of homozygotes: 50

Other
type: Population
allele count: 159
allele frequency: 2.277936962750716e-1
allele num: 698
num of homozygotes: 14

East Asian
type: Population
allele count: 2218
allele frequency: 3.171289676865885e-1
allele num: 6994
num of homozygotes: 322

Latino
type: Population
allele count: 3506
allele frequency: 3.943757030371204e-1
allele num: 8890
num of homozygotes: 561

South Asian
type: Population
allele count: 3563
allele frequency: 2.366498405951116e-1
allele num: 15056
num of homozygotes: 392

European (Finnish)
type: Population
allele count: 814
allele frequency: 2.011863568956995e-1
allele num: 4046
num of homozygotes: 63

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.256725e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.272e0

FS
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 5.63e1

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

GenotypeQuality
all individuals: 4283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12748
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQRankSum
type: SiteQuality
SIO_000300: -1.584e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

DP
type: SiteQuality
SIO_000300: 6.84822e5

QD
type: SiteQuality
SIO_000300: 8.99e0

MQ
type: SiteQuality
SIO_000300: 6.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4296
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.806e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.395e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 3.62e0

DP
type: SiteQuality
SIO_000300: 6.83805e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3299
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4555
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 647
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

QD
type: SiteQuality
SIO_000300: 7.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 6.9071e5

MQ
type: SiteQuality
SIO_000300: 5.668e1

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

GenotypeQuality
all individuals: 1676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.940110323089047e-4
allele num: 2538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.668e1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

QD
type: SiteQuality
SIO_000300: 7.01e0

DP
type: SiteQuality
SIO_000300: 6.9071e5

GenotypeQuality
all individuals: 1798
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 501
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1205
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2483
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 6144
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 711
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3014
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2183
bin: 3.25e1
variant carriers: 7

Other
type: Population
allele count: 1
allele frequency: 3.144654088050315e-3
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 145
allele frequency: 1.902387824717922e-2
allele num: 7622
num of homozygotes: 2

Latino
type: Population
allele count: 3
allele frequency: 1.351351351351351e-3
allele num: 2220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 1.714408172012287e-3
allele num: 27998
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.503759398496241e-3
allele num: 1330
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.551189245087901e-3
allele num: 1934
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 5.360333531864205e-3
allele num: 3358
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 6.75808e5

MQ
type: SiteQuality
SIO_000300: 5.787e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.197e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 6144
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.623983206507478e-4
allele num: 7622
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.75808e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.197e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 2022
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3014
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 10300
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2533
bin: 9.75e1
variant carriers: 106

GenotypeQuality
all individuals: 2183
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.785841845846132e-4
allele num: 27998
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 3.619441571871768e-3
allele num: 1934
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.504504504504505e-4
allele num: 2220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.977963073257892e-4
allele num: 3358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

South Asian
type: Population
allele count: 120
allele frequency: 1.574389923904487e-2
allele num: 7622
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.197e-1

QD
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 6.75808e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4800
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10300
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6144
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2533
bin: 9.75e1
variant carriers: 97

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2483
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 501
bin: 5.25e1
variant carriers: 1

South Asian
type: Population
allele count: 56
allele frequency: 7.347152978220939e-3
allele num: 7622
num of homozygotes: 1

Latino
type: Population
allele count: 8
allele frequency: 3.603603603603604e-3
allele num: 2220
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.170630816959669e-4
allele num: 1934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 7.143367383384528e-4
allele num: 27998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 6.84931506849315e-3
allele num: 3358
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

QD
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 6.75808e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.197e-1

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 25

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 34

GenotypeQuality
all individuals: 10300
bin: 2.25e1
variant carriers: 44

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 30

GenotypeQuality
all individuals: 2483
bin: 2.75e1
variant carriers: 34

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 27

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 49

GenotypeQuality
all individuals: 2533
bin: 9.75e1
variant carriers: 351

GenotypeQuality
all individuals: 1205
bin: 3.75e1
variant carriers: 33

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 32

GenotypeQuality
all individuals: 987
bin: 6.75e1
variant carriers: 44

African
type: Population
allele count: 55
allele frequency: 1.63787969029184e-2
allele num: 3358
num of homozygotes: 1

Latino
type: Population
allele count: 18
allele frequency: 8.108108108108109e-3
allele num: 2220
num of homozygotes: 0

East Asian
type: Population
allele count: 47
allele frequency: 2.430196483971045e-2
allele num: 1934
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 242
allele frequency: 8.643474533895279e-3
allele num: 27998
num of homozygotes: 2

Other
type: Population
allele count: 3
allele frequency: 9.433962264150943e-3
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 1.428571428571429e-2
allele num: 1330
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 2.230385725531356e-3
allele num: 7622
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 6.75808e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.197e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.787e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
all individuals: 2533
bin: 9.75e1
variant carriers: 425

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 15

GenotypeQuality
all individuals: 711
bin: 4.25e1
variant carriers: 17

GenotypeQuality
all individuals: 2022
bin: 1.25e1
variant carriers: 28

GenotypeQuality
all individuals: 3014
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 987
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1205
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 13

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2483
bin: 2.75e1
variant carriers: 15

European (Non-Finnish)
type: Population
allele count: 123
allele frequency: 4.393170940781484e-3
allele num: 27998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.503759398496241e-3
allele num: 1330
num of homozygotes: 0

African
type: Population
allele count: 280
allele frequency: 8.338296605122096e-2
allele num: 3358
num of homozygotes: 8

South Asian
type: Population
allele count: 15
allele frequency: 1.967987404880609e-3
allele num: 7622
num of homozygotes: 0

East Asian
type: Population
allele count: 33
allele frequency: 1.706308169596691e-2
allele num: 1934
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 1.216216216216216e-2
allele num: 2220
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 9.433962264150943e-3
allele num: 318
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.197e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 6.75808e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.787e1

QD
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.86233e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 6.234e1

QD
type: SiteQuality
SIO_000300: 5.66e0