16-90015994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90015994
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90015994
    reference: chr 16
allele count: 2
allele frequency: 1.674733298722178e-5
allele num: 119422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+772G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+772G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.40G>A
  hgvsp: ENSP00000457309.1:p.Val14Met
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.121G>A
  hgvsp: ENSP00000268676.7:p.Val41Met
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+73G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+772G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+772G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val41Met
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-90015999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90015999
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90015999
    reference: chr 16
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+777G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.45G>A
  hgvsp: ENSP00000457309.1:p.Met15Ile
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+777G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+777G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.126G>A
  hgvsp: ENSP00000268676.7:p.Met42Ile
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+777G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+78G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+78G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met42Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

16-90016000-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016000
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016000
    reference: chr 16
allele count: 2
allele frequency: 1.677570877369569e-5
allele num: 119220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.127A>T
  hgvsp: ENSP00000268676.7:p.Thr43Ser
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+778A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+778A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.46A>T
  hgvsp: ENSP00000457309.1:p.Thr16Ser
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+79A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+778A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+778A>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+79A>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr43Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-90016004-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016004
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016004
    reference: chr 16
allele count: 1
allele frequency: 8.398138972403716e-6
allele num: 119074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+782C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.131C>A
  hgvsp: ENSP00000268676.7:p.Pro44Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+782C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+782C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.50C>A
  hgvsp: ENSP00000457309.1:p.Pro17Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+782C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+83C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+83C>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro44Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-90016005-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016005
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016005
    reference: chr 16
allele count: 1
allele frequency: 8.401949252226517e-6
allele num: 119020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+783G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+783G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.132G>C
  hgvsp: ENST00000268676.7:c.132G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+783G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.51G>C
  hgvsp: ENST00000561741.1:c.51G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+84G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+783G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+84G>C
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro44Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-90016018-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016018
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016018
    reference: chr 16
allele count: 1
allele frequency: 8.4530853761623e-6
allele num: 118300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.145C>G
  hgvsp: ENSP00000268676.7:p.His49Asp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.64C>G
  hgvsp: ENSP00000457309.1:p.His22Asp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+796C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+796C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+796C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+97C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+796C>G
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His49Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

16-90016020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016020
    reference: chr 16
allele count: 1
allele frequency: 8.463960456376747e-6
allele num: 118148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.66C>G
  hgvsp: ENSP00000457309.1:p.His22Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.147C>G
  hgvsp: ENSP00000268676.7:p.His49Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+798C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+798C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+798C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+99C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+798C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+99C>G
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His49Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

16-90016021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016021
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016021
    reference: chr 16
allele count: 1
allele frequency: 8.473570932262274e-6
allele num: 118014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.67G>A
  hgvsp: ENSP00000457309.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+799G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.148G>A
  hgvsp: ENSP00000268676.7:p.Ala50Thr
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+799G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+799G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+100G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+799G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+100G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala50Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

16-90016025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016025
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016025
    reference: chr 16
allele count: 1
allele frequency: 8.501088139281828e-6
allele num: 117632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+803C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+803C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.71C>T
  hgvsp: ENSP00000457309.1:p.Ala24Val
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.152C>T
  hgvsp: ENSP00000268676.7:p.Ala51Val
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+803C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+803C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+104C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+104C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala51Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-90016026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016026
    reference: chr 16
allele count: 21
allele frequency: 1.785076758300607e-4
allele num: 117642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.72G>A
  hgvsp: ENST00000561741.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+804G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+804G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.153G>A
  hgvsp: ENST00000268676.7:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+804G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+105G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+804G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala51Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

16-90016034-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016034
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016033
    reference: chr 16
allele count: 1
allele frequency: 8.57030218885518e-6
allele num: 116682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+813delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.162delG
  hgvsp: ENSP00000268676.7:p.Arg55GlyfsTer67
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+813delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.81delG
  hgvsp: ENSP00000457309.1:p.Arg28GlyfsTer67
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+813delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+813delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+114delG
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+114delG
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55GlyfsTer67
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: CG
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-90016034-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016034
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016034
    reference: chr 16
allele count: 1
allele frequency: 8.57030218885518e-6
allele num: 116682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.80C>A
  hgvsp: ENSP00000457309.1:p.Thr27Lys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+812C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+812C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+812C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.161C>A
  hgvsp: ENSP00000268676.7:p.Thr54Lys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+812C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+113C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+113C>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr54Lys
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: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-90016036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016036
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016036
    reference: chr 16
allele count: 1
allele frequency: 8.583101589590414e-6
allele num: 116508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.82C>T
  hgvsp: ENSP00000457309.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+814C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+814C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.163C>T
  hgvsp: ENSP00000268676.7:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+814C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+115C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+814C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-90016037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016037
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016037
    reference: chr 16
allele count: 2
allele frequency: 1.719808757266192e-5
allele num: 116292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.83G>A
  hgvsp: ENSP00000457309.1:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+815G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.164G>A
  hgvsp: ENSP00000268676.7:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+815G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+815G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+815G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+116G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+116G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

16-90016038-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016038
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016038
    reference: chr 16
allele count: 25
allele frequency: 2.149465213054992e-4
allele num: 116308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.165G>T
  hgvsp: ENST00000268676.7:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+816G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.84G>T
  hgvsp: ENST00000561741.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+816G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+117G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+816G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+816G>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

16-90016041-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016041
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016041
    reference: chr 16
allele count: 1
allele frequency: 8.635876886939099e-6
allele num: 115796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+819G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+819G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.168G>T
  hgvsp: ENSP00000268676.7:p.Glu56Asp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.87G>T
  hgvsp: ENSP00000457309.1:p.Glu29Asp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+819G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+120G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+819G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+120G>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu56Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

16-90016047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016047
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016047
    reference: chr 16
allele count: 1
allele frequency: 8.702917217851423e-6
allele num: 114904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+1G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+825G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+825G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+1G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+825G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+126G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+825G>C
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.173+1G>C
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

16-90016048-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016048
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016048
    reference: chr 16
allele count: 1
allele frequency: 8.728593125360055e-6
allele num: 114566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+2T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+826T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+826T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+2T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+826T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+826T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+127T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+127T>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.173+2T>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

16-90016050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016050
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016050
    reference: chr 16
allele count: 1
allele frequency: 8.776857182979919e-6
allele num: 113936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+4C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+828C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+4C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+828C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+828C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+828C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+129C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+129C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.173+4C>T
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-90016058-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016058
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016058
    reference: chr 16
allele count: 2
allele frequency: 1.774276538741328e-5
allele num: 112722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+836C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+12C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+836C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+836C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+836C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+137C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+12C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+137C>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-90016059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016059
    reference: chr 16
allele count: 3
allele frequency: 2.670512204240773e-5
allele num: 112338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+13C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+837C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+13C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+837C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+138C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+837C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+837C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

16-90016060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016060
    reference: chr 16
allele count: 2
allele frequency: 1.784280488892854e-5
allele num: 112090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+838G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+838G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+838G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+838G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+14G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+139G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+14G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

16-90016060-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016060
    reference: chr 16
allele count: 2
allele frequency: 1.784280488892854e-5
allele num: 112090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+838G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+14G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+14G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+838G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+838G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+139G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+838G>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

16-90016061-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016061
    reference: chr 16
allele count: 1
allele frequency: 8.937668698496684e-6
allele num: 111886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+15C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+15C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+839C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+839C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+839C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+839C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+140C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+140C>G
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

16-90016061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016061
    reference: chr 16
allele count: 1
allele frequency: 8.937668698496684e-6
allele num: 111886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+839C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+839C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+839C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+839C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+15C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+140C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+15C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+140C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

16-90016061-CGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016059
    reference: chr 16
allele count: 1
allele frequency: 8.937668698496684e-6
allele num: 111886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+18_92+19delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+143_117+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+143_-11+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+18_173+19delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+143_-11+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+842_-11+843delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+143_-57+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+143_-132+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+143_117+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+143_48+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+842_18+843delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+143_-136+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+143_-273+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+143_117+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+842_-11+843delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+143_-11+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+143_-11+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+842_-57+843delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+143_-11+144delGT
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+143_-11+144delGT
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: CGT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

16-90016062-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016062
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016062
    reference: chr 16
allele count: 1
allele frequency: 8.949827268333721e-6
allele num: 111734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+840G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+840G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+840G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+840G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+16G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+16G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+141G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+141G>C
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

16-90016067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016067
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016067
    reference: chr 16
allele count: 1
allele frequency: 9.050920478612675e-6
allele num: 110486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+21C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+845C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+845C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+845C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+845C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+146C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+21C>G
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

16-90016073-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016073
    reference: chr 16
allele count: 1
allele frequency: 9.141269173812093e-6
allele num: 109394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+851T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+851T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+27T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+851T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+152T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+27T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+851T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+152T>C
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

16-90016075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016075
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016075
    reference: chr 16
allele count: 16
allele frequency: 1.470777489750519e-4
allele num: 108786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+29C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+29C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+853C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+853C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+154C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+853C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+853C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18259
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

16-90016076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016076
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016076
    reference: chr 16
allele count: 277
allele frequency: 2.552571923551853e-3
allele num: 108518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+854G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+854G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+854G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+854G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+30G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+155G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+30G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+155G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

16-90016077-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016077
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016077
    reference: chr 16
allele count: 1
allele frequency: 9.236510077032494e-6
allele num: 108266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+855G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+855G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+31G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+31G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+156G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+855G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+855G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+156G>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-90016079-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016079
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016079
    reference: chr 16
allele count: 1
allele frequency: 9.268527787046306e-6
allele num: 107892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+33C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+857C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+33C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+857C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+857C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+158C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+857C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+158C>G
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

16-90016082-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016082
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016082
    reference: chr 16
allele count: 2
allele frequency: 1.877158732542424e-5
allele num: 106544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+36G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+860G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+860G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+860G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+36G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+161G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+860G>C
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

16-90016088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016088
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016088
    reference: chr 16
allele count: 1
allele frequency: 9.65400061785604e-6
allele num: 103584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+866C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+42C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+42C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+866C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+866C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+167C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+866C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

16-90016092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016092
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016092
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 102094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+870G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+46G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+46G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+870G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+870G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+171G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+870G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

16-90016098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90016098
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90016098
    reference: chr 16
allele count: 11
allele frequency: 1.135237780713342e-4
allele num: 96896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-11+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.117+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-57+876C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-11+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-273+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.117+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-11+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-11+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-57+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.18+876C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-11+876C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.117+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-136+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.173+52C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.92+52C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-132+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-11+876C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-11+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-11+177C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.48+177C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

16-90020601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020601
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020601
    reference: chr 16
allele count: 2
allele frequency: 1.725268279217418e-5
allele num: 115924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-976G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-976G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-96G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-96G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-50G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-50G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

16-90020605-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020605
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020605
    reference: chr 16
allele count: 1
allele frequency: 8.624407072013798e-6
allele num: 115950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-56T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-972T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-972T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-92T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-92T>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-46T>G
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/16-90020609-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020609
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020609
    reference: chr 16
allele count: 3
allele frequency: 2.587991718426501e-5
allele num: 115920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-968C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-968C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-88C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-52C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-88C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-42C>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-42C>A
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-90020610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020610
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020610
    reference: chr 16
allele count: 1
allele frequency: 8.619203585588691e-6
allele num: 116020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-967C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-87C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-967C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-41C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-87C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-41C>G
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

16-90020611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020611
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020611
    reference: chr 16
allele count: 1
allele frequency: 8.610891055006372e-6
allele num: 116132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-86T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-966T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-966T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-86T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-50T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-40T>C
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

16-90020614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020614
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020614
    reference: chr 16
allele count: 1
allele frequency: 8.606148232297153e-6
allele num: 116196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-963T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-83T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-47T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-83T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-37T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-963T>C
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-90020616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020616
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020616
    reference: chr 16
allele count: 1
allele frequency: 8.606000103272e-6
allele num: 116198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-961C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-81C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-961C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-81C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-90020623-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020623
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020623
    reference: chr 16
allele count: 1
allele frequency: 8.585017427585377e-6
allele num: 116482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-954A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-74A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-954A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-38A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-74A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-28A>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-28A>C
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-90020626-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020626
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020626
    reference: chr 16
allele count: 3
allele frequency: 2.574090916891185e-5
allele num: 116546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-951C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-951C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-71C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-71C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-25C>G
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-90020632-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020632
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020632
    reference: chr 16
allele count: 2
allele frequency: 1.711332443440463e-5
allele num: 116868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.93-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.118-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-29G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.174-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-65G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.118-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-945G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-945G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.118-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-10-19G>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-65G>C
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

16-90020655-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020655
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020655
    reference: chr 16
allele count: 1
allele frequency: 8.391514500537057e-6
allele num: 119168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.122G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.178G>T
  hgvsp: ENSP00000268676.7:p.Asp60Tyr
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.122G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-922G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-922G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.97G>T
  hgvsp: ENSP00000457309.1:p.Asp33Tyr
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-42G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-42G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.122G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp60Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

16-90020657-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020657
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020657
    reference: chr 16
allele count: 1
allele frequency: 8.381667616588997e-6
allele num: 119308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.99T>A
  hgvsp: ENSP00000457309.1:p.Asp33Glu
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-40T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-920T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.180T>A
  hgvsp: ENSP00000268676.7:p.Asp60Glu
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.124T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.124T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.124T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-40T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-920T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp60Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

16-90020657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020657
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020657
    reference: chr 16
allele count: 1
allele frequency: 8.381667616588997e-6
allele num: 119308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-40T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.124T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.180T>C
  hgvsp: ENST00000268676.7:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-920T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.99T>C
  hgvsp: ENST00000561741.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.124T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.124T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-920T>C
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-40T>C
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp60Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

16-90020666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020666
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020666
    reference: chr 16
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-911A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.6A>G
  hgvsp: ENST00000561959.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.6A>G
  hgvsp: ENST00000567884.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.108A>G
  hgvsp: ENST00000561741.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.6A>G
  hgvsp: ENST00000563795.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.6A>G
  hgvsp: ENST00000566820.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.133A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.6A>G
  hgvsp: ENST00000564836.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.6A>G
  hgvsp: ENST00000567999.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.6A>G
  hgvsp: ENST00000569061.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.6A>G
  hgvsp: ENST00000570182.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.133A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.189A>G
  hgvsp: ENST00000268676.7:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.6A>G
  hgvsp: ENST00000561784.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.6A>G
  hgvsp: ENST00000418391.2:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.6A>G
  hgvsp: ENST00000563594.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-31A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-911A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.6A>G
  hgvsp: ENST00000569453.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu63Glu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

16-90020668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020668
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020668
    reference: chr 16
allele count: 2
allele frequency: 1.668474180362059e-5
allele num: 119870
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.191A>G
  hgvsp: ENSP00000268676.7:p.Tyr64Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.8A>G
  hgvsp: ENSP00000454478.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.8A>G
  hgvsp: ENSP00000458019.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.8A>G
  hgvsp: ENSP00000456799.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.135A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-909A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-29A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.135A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.8A>G
  hgvsp: ENSP00000457627.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-29A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.8A>G
  hgvsp: ENSP00000454930.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.8A>G
  hgvsp: ENSP00000455654.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.8A>G
  hgvsp: ENSP00000456157.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.8A>G
  hgvsp: ENSP00000456501.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.8A>G
  hgvsp: ENSP00000455783.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.8A>G
  hgvsp: ENSP00000456706.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.8A>G
  hgvsp: ENSP00000412784.2:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.8A>G
  hgvsp: ENSP00000457072.1:p.Tyr3Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-909A>G
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.135A>G
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr64Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

16-90020681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020681
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020681
    reference: chr 16
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.148G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.204G>A
  hgvsp: ENST00000268676.7:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.148G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.21G>A
  hgvsp: ENST00000561784.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.21G>A
  hgvsp: ENST00000566820.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-16G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.21G>A
  hgvsp: ENST00000564836.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.21G>A
  hgvsp: ENST00000567884.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.21G>A
  hgvsp: ENST00000563594.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-896G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.21G>A
  hgvsp: ENST00000561959.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.21G>A
  hgvsp: ENST00000569061.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.123G>A
  hgvsp: ENST00000561741.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.21G>A
  hgvsp: ENST00000563795.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.21G>A
  hgvsp: ENST00000567999.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.21G>A
  hgvsp: ENST00000418391.2:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.148G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.21G>A
  hgvsp: ENST00000570182.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-16G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-896G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu68Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

16-90020685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020685
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020685
    reference: chr 16
allele count: 2
allele frequency: 1.663146340246478e-5
allele num: 120254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.25C>T
  hgvsp: ENSP00000456706.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-12C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.127C>T
  hgvsp: ENSP00000457309.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.25C>T
  hgvsp: ENSP00000454478.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.25C>T
  hgvsp: ENSP00000457627.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.25C>T
  hgvsp: ENSP00000455654.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.25C>T
  hgvsp: ENSP00000457072.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.25C>T
  hgvsp: ENSP00000454930.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.25C>T
  hgvsp: ENSP00000456157.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.25C>T
  hgvsp: ENSP00000412784.2:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.152C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-892C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.25C>T
  hgvsp: ENSP00000456799.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.152C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.25C>T
  hgvsp: ENSP00000458019.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.152C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.208C>T
  hgvsp: ENSP00000268676.7:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.25C>T
  hgvsp: ENSP00000455783.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.25C>T
  hgvsp: ENSP00000456501.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg70Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

16-90020686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020686
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020686
    reference: chr 16
allele count: 4
allele frequency: 3.3254630707326e-5
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.26G>A
  hgvsp: ENSP00000454930.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.26G>A
  hgvsp: ENSP00000456157.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.26G>A
  hgvsp: ENSP00000412784.2:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.209G>A
  hgvsp: ENSP00000268676.7:p.Arg70His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.26G>A
  hgvsp: ENSP00000457072.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.26G>A
  hgvsp: ENSP00000454478.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.128G>A
  hgvsp: ENSP00000457309.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.26G>A
  hgvsp: ENSP00000455783.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.26G>A
  hgvsp: ENSP00000457627.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.26G>A
  hgvsp: ENSP00000456706.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.26G>A
  hgvsp: ENSP00000458019.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.26G>A
  hgvsp: ENSP00000456799.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.26G>A
  hgvsp: ENSP00000456501.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.153G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-891G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.26G>A
  hgvsp: ENSP00000455654.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.153G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-11G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.153G>A
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg70His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

16-90020690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020690
    reference: chr 16
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.30C>T
  hgvsp: ENST00000567884.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.30C>T
  hgvsp: ENST00000418391.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.30C>T
  hgvsp: ENST00000570182.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-7C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.30C>T
  hgvsp: ENST00000563594.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.30C>T
  hgvsp: ENST00000567999.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.157C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-7C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.30C>T
  hgvsp: ENST00000561959.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.30C>T
  hgvsp: ENST00000569453.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.30C>T
  hgvsp: ENST00000566820.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.30C>T
  hgvsp: ENST00000563795.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.132C>T
  hgvsp: ENST00000561741.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.157C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.30C>T
  hgvsp: ENST00000561784.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-887C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-887C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.213C>T
  hgvsp: ENST00000268676.7:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.30C>T
  hgvsp: ENST00000569061.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.19-7C>T
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-90020691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020691
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020691
    reference: chr 16
allele count: 2
allele frequency: 1.662289304830613e-5
allele num: 120316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.31C>T
  hgvsp: ENSP00000457072.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.31C>T
  hgvsp: ENSP00000455783.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-6C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.158C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.214C>T
  hgvsp: ENSP00000268676.7:p.Arg72Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.31C>T
  hgvsp: ENSP00000454478.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-886C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.31C>T
  hgvsp: ENSP00000412784.2:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.31C>T
  hgvsp: ENSP00000454930.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.31C>T
  hgvsp: ENSP00000456706.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.31C>T
  hgvsp: ENSP00000456501.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.158C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.133C>T
  hgvsp: ENSP00000457309.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.31C>T
  hgvsp: ENSP00000456799.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.31C>T
  hgvsp: ENSP00000456157.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-886C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.31C>T
  hgvsp: ENSP00000458019.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.158C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-6C>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.31C>T
  hgvsp: ENSP00000457627.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg72Trp
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

16-90020692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020692
    reference: chr 16
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.215G>A
  hgvsp: ENSP00000268676.7:p.Arg72Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.32G>A
  hgvsp: ENSP00000457072.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-885G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.134G>A
  hgvsp: ENSP00000457309.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.32G>A
  hgvsp: ENSP00000454478.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.32G>A
  hgvsp: ENSP00000458019.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.32G>A
  hgvsp: ENSP00000456799.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.32G>A
  hgvsp: ENSP00000412784.2:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.32G>A
  hgvsp: ENSP00000456706.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.32G>A
  hgvsp: ENSP00000456157.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.32G>A
  hgvsp: ENSP00000455654.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-5G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.159G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-5G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.159G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-885G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.32G>A
  hgvsp: ENSP00000455783.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.159G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.32G>A
  hgvsp: ENSP00000456501.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/25969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg72Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

16-90020696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020696
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020696
    reference: chr 16
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.138G>A
  hgvsp: ENST00000561741.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.163G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.36G>A
  hgvsp: ENST00000566820.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.36G>A
  hgvsp: ENST00000567884.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.36G>A
  hgvsp: ENST00000563795.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.36G>A
  hgvsp: ENST00000563594.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-1G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.163G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.36G>A
  hgvsp: ENST00000567999.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.36G>A
  hgvsp: ENST00000418391.2:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-881G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455654
  ensembl transcript: ENST00000561784
  gene symbol: DEF8
  hgvsc: ENST00000561784.1:c.36G>A
  hgvsp: ENST00000561784.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.36G>A
  hgvsp: ENST00000569061.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.163G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.36G>A
  hgvsp: ENST00000569453.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-1G>A
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.36G>A
  hgvsp: ENST00000564836.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.36G>A
  hgvsp: ENST00000570182.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.219G>A
  hgvsp: ENST00000268676.7:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.36G>A
  hgvsp: ENST00000561959.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.19-1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

16-90020696-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90020696
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 90020696
    reference: chr 16
allele count: 6
allele frequency: 4.985293384515678e-5
allele num: 120354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457627
  ensembl transcript: ENST00000563795
  gene symbol: DEF8
  hgvsc: ENST00000563795.1:c.36G>T
  hgvsp: ENSP00000457627.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454478
  ensembl transcript: ENST00000569061
  gene symbol: DEF8
  hgvsc: ENST00000569061.1:c.36G>T
  hgvsp: ENSP00000454478.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456954
  ensembl transcript: ENST00000566079
  gene symbol: DEF8
  hgvsc: ENST00000566079.1:c.49-1G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457309
  ensembl transcript: ENST00000561741
  gene symbol: DEF8
  hgvsc: ENST00000561741.1:c.138G>T
  hgvsp: ENSP00000457309.1:p.Gln46His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000457072
  ensembl transcript: ENST00000567999
  gene symbol: DEF8
  hgvsc: ENST00000567999.1:c.36G>T
  hgvsp: ENSP00000457072.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456799
  ensembl transcript: ENST00000570182
  gene symbol: DEF8
  hgvsc: ENST00000570182.1:c.36G>T
  hgvsp: ENSP00000456799.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000567243
  gene symbol: DEF8
  hgvsc: ENST00000567243.1:n.163G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456157
  ensembl transcript: ENST00000567884
  gene symbol: DEF8
  hgvsc: ENST00000567884.1:c.36G>T
  hgvsp: ENSP00000456157.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456706
  ensembl transcript: ENST00000561959
  gene symbol: DEF8
  hgvsc: ENST00000561959.1:c.36G>T
  hgvsp: ENSP00000456706.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000412784
  ensembl transcript: ENST00000418391
  gene symbol: DEF8
  hgvsc: ENST00000418391.2:c.36G>T
  hgvsp: ENSP00000412784.2:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454534
  ensembl transcript: ENST00000562578
  gene symbol: DEF8
  hgvsc: ENST00000562578.1:c.19-1G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000268676
  ensembl transcript: ENST00000268676
  gene symbol: DEF8
  hgvsc: ENST00000268676.7:c.219G>T
  hgvsp: ENSP00000268676.7:p.Gln73His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000458019
  ensembl transcript: ENST00000563594
  gene symbol: DEF8
  hgvsc: ENST00000563594.1:c.36G>T
  hgvsp: ENSP00000458019.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000454930
  ensembl transcript: ENST00000564836
  gene symbol: DEF8
  hgvsc: ENST00000564836.1:c.36G>T
  hgvsp: ENSP00000454930.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000568096
  gene symbol: DEF8
  hgvsc: ENST00000568096.1:n.163G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456095
  ensembl transcript: ENST00000567874
  gene symbol: DEF8
  hgvsc: ENST00000567874.1:c.-56-881G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455987
  ensembl transcript: ENST00000562986
  gene symbol: DEF8
  hgvsc: ENST00000562986.1:c.-56-881G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140995
  ensembl transcript: ENST00000569803
  gene symbol: DEF8
  hgvsc: ENST00000569803.1:n.163G>T
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000455783
  ensembl transcript: ENST00000566820
  gene symbol: DEF8
  hgvsc: ENST00000566820.1:c.36G>T
  hgvsp: ENSP00000455783.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140995
  ensembl protein: ENSP00000456501
  ensembl transcript: ENST00000569453
  gene symbol: DEF8
  hgvsc: ENST00000569453.1:c.36G>T
  hgvsp: ENSP00000456501.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25969
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.19-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

GenotypeDepth
all individuals: 13737
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30517
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 733
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2508
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11062
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 997
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532567049808429e-5
allele num: 65250
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5047e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.378e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 7.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

DP
type: SiteQuality
SIO_000300: 1.669877e6

GenotypeDepth
all individuals: 10907
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13727
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 749
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30431
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2510
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 734
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534872298624754e-5
allele num: 65152
num of homozygotes: 0

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

Other
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Latino
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.556856395566073e-5
allele num: 64232
num of homozygotes: 0

Other
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East Asian
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BaseQRankSum
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SIO_000300: 1.18e0

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

African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 64240
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South Asian
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Other
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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DP
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QD
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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DP
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.793527963418924e-5
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele num: 63528
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East Asian
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African
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Other
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FS
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MQRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Other
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South Asian
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European (Finnish)
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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South Asian
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African
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Other
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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FS
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MQRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -8.0e-4

ReadPosRankSum
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DP
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SIO_000300: 1.566216e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.597597213790459e-5
allele num: 62594
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -9.0e-4

DP
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SIO_000300: 1.557003e6

GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.038853106170787e-4
allele num: 9626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -8.52e-1

DP
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SIO_000300: 1.541043e6

MQRankSum
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SIO_000300: 7.71e-1

MQ
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SIO_000300: 5.767e1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-3

VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.02e1

BaseQRankSum
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SIO_000300: -1.509e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 1
allele frequency: 1.20627261761158e-4
allele num: 8290
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.623692927193609e-5
allele num: 61588
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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Other
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BaseQRankSum
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FS
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.258921297050677e-5
allele num: 61370
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.266159323251788e-5
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Latino
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South Asian
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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SIO_000300: 1.5e0

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.476245e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
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allele count: 2
allele frequency: 2.42306760358614e-4
allele num: 8254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61234
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.476245e6

MQRankSum
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MQ
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SIO_000300: 5.958e1

VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 4.3e-3

BaseQRankSum
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SIO_000300: -2.819e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.63526949241235e-5
allele num: 61152
num of homozygotes: 0

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

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

ReadPosRankSum
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SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

InbreedingCoeff
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SIO_000300: 9.7e-3

BaseQRankSum
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SIO_000300: 3.23e0

ClippingRankSum
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SIO_000300: -3.54e-1

VQSLOD
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SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 6.468e0

DP
type: SiteQuality
SIO_000300: 1.466906e6

QD
type: SiteQuality
SIO_000300: 1.729e1

MQ
type: SiteQuality
SIO_000300: 6.039e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.63526949241235e-5
allele num: 61152
num of homozygotes: 0

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

East Asian
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allele count: 0
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num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 9.7e-3

MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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MQRankSum
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SIO_000300: -4.28e-1

QD
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BaseQRankSum
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SIO_000300: 3.23e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.63526949241235e-5
allele num: 61152
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

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

South Asian
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European (Non-Finnish)
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BaseQRankSum
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SIO_000300: -1.811e0

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

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

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.572893387669252e-5
allele num: 15214
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.609385327164574e-5
allele num: 15130
num of homozygotes: 0

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

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

Other
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VQSLOD
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InbreedingCoeff
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DP
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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SIO_000300: 4.638e0

ClippingRankSum
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SIO_000300: -3.17e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 5.050335005555368e-5
allele num: 59402
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

Other
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allele count: 0
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East Asian
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allele frequency: 1.614505712866369e-3
allele num: 8052
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -1.4e-1

ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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SIO_000300: 4.65e-1

BaseQRankSum
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SIO_000300: 2.89e0

FS
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SIO_000300: 6.039e0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 225
allele frequency: 3.798237617745366e-3
allele num: 59238
num of homozygotes: 0

European (Finnish)
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allele count: 5
allele frequency: 8.890469416785206e-4
allele num: 5624
num of homozygotes: 0

Other
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allele count: 2
allele frequency: 2.557544757033248e-3
allele num: 782
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.55247084952804e-4
allele num: 10806
num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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allele count: 32
allele frequency: 2.128508713582546e-3
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African
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allele frequency: 7.770870337477797e-4
allele num: 9008
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VQSLOD
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8994
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8000
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5612
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.693250702699042e-5
allele num: 59058
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Other
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 6.6e-3

BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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European (Finnish)
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East Asian
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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FS
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MQ
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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MQ
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DP
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VQSLOD
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FS
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GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4597
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8262
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5886
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8380
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24132
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.360513929525506e-5
allele num: 15722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.664e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 1.119e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 2.393043e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.812e0

GenotypeDepth
all individuals: 8379
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 470
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4597
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 831
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6469
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7491
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9026
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3147
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24131
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 8.361000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.086e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 2.395588e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeDepth
all individuals: 831
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4597
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3147
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7491
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6469
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9026
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8379
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 470
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24131
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524715640533041e-5
allele num: 65586
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.361000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

DP
type: SiteQuality
SIO_000300: 2.395588e6

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.086e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000454534
ensembl transcript: ENST00000562578
gene symbol: DEF8
hgvsc: ENST00000562578.1:c.19-31A>G
variant of: http://identifiers.org/hgnc/25969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000140995
ensembl transcript: ENST00000569803
gene symbol: DEF8
hgvsc: ENST00000569803.1:n.133A>G
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 6746
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9071
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7489
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8384
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3146
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8509
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4597
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24131
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13893
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.013e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

DP
type: SiteQuality
SIO_000300: 2.403047e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000457309
ensembl transcript: ENST00000561741
gene symbol: DEF8
hgvsc: ENST00000561741.1:c.110A>G
hgvsp: ENSP00000457309.1:p.Tyr37Cys
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 6794
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4598
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 7490
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8527
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8384
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9065
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24130
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65756
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

FS
type: SiteQuality
SIO_000300: 5.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

DP
type: SiteQuality
SIO_000300: 2.403913e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000456501
ensembl transcript: ENST00000569453
gene symbol: DEF8
hgvsc: ENST00000569453.1:c.21G>A
hgvsp: ENST00000569453.1:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8695
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6869
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7488
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4598
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5889
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1337
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8388
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9098
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51828009231143e-5
allele num: 65864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.408453e6

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

FS
type: SiteQuality
SIO_000300: 1.304e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000456954
ensembl transcript: ENST00000566079
gene symbol: DEF8
hgvsc: ENST00000566079.1:c.49-12C>T
variant of: http://identifiers.org/hgnc/25969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000455987
ensembl transcript: ENST00000562986
gene symbol: DEF8
hgvsc: ENST00000562986.1:c.-56-892C>T
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8730
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8389
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5889
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4598
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7489
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6849
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9108
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24129
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4943
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.018e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 2.409297e6

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 2.353e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000456954
ensembl transcript: ENST00000566079
gene symbol: DEF8
hgvsc: ENST00000566079.1:c.49-11G>A
variant of: http://identifiers.org/hgnc/25969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000456095
ensembl transcript: ENST00000567874
gene symbol: DEF8
hgvsc: ENST00000567874.1:c.-56-891G>A
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7489
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8727
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8386
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6855
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4596
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3146
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 117
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 255
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9122
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24129
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518095700752976e-5
allele num: 65872
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.419e1

DP
type: SiteQuality
SIO_000300: 2.40961e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000454930
ensembl transcript: ENST00000564836
gene symbol: DEF8
hgvsc: ENST00000564836.1:c.30C>T
hgvsp: ENST00000564836.1:c.30C>T(p.%3D)
variant of: http://identifiers.org/hgnc/25969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000140995
ensembl transcript: ENST00000568096
gene symbol: DEF8
hgvsc: ENST00000568096.1:n.157C>T
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8389
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6854
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9121
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4596
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7491
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8737
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14247
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.047e0

DP
type: SiteQuality
SIO_000300: 2.409693e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.11e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000455654
ensembl transcript: ENST00000561784
gene symbol: DEF8
hgvsc: ENST00000561784.1:c.31C>T
hgvsp: ENSP00000455654.1:p.Arg11Trp
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9121
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4596
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6845
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7490
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5888
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 255
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3144
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8393
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8745
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2035
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24124
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035638394754417e-5
allele num: 65884
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.297e1

FS
type: SiteQuality
SIO_000300: 4.617e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 2.409937e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000457627
ensembl transcript: ENST00000563795
gene symbol: DEF8
hgvsc: ENST00000563795.1:c.32G>A
hgvsp: ENSP00000457627.1:p.Arg11Gln
variant of: http://identifiers.org/hgnc/25969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000454930
ensembl transcript: ENST00000564836
gene symbol: DEF8
hgvsc: ENST00000564836.1:c.32G>A
hgvsp: ENSP00000454930.1:p.Arg11Gln
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 8742
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9119
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4595
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6868
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5889
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3144
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2035
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 365
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8390
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7493
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14307
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24124
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517680983457277e-5
allele num: 65890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1

DP
type: SiteQuality
SIO_000300: 2.409952e6

FS
type: SiteQuality
SIO_000300: 3.556e0

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000456095
ensembl transcript: ENST00000567874
gene symbol: DEF8
hgvsc: ENST00000567874.1:c.-56-881G>A
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 8775
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6858
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7491
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5890
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9112
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4595
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1338
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8391
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.410347e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 3.259e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.243e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.167e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000140995
ensembl protein: ENSP00000455654
ensembl transcript: ENST00000561784
gene symbol: DEF8
hgvsc: ENST00000561784.1:c.36G>T
hgvsp: ENSP00000455654.1:p.Gln12His
variant of: http://identifiers.org/hgnc/25969

GenotypeDepth
all individuals: 7491
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6858
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8775
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8391
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 354
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2033
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1338
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9112
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5890
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 131
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4595
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24125
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.639893229798593e-4
allele num: 16484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 2.410347e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3