2-242598747-AGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598745
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 18500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.621_622delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+3990_601+3991delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+146_316+147delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+146_538+147delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.664_665delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+146_618+147delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4686_385+4687delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+146_496+147delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.684_685delGC
  hgvsp: ENSP00000409895.1:p.Lys228AsnfsTer?
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+146_316+147delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+146_316+147delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+146_*364+147delGC
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+146_538+147delGC
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys228AsnfsTer?
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AGC
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-242598751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598751
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598751
    reference: chr 2
allele count: 1
allele frequency: 5.466870763175159e-5
allele num: 18292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+149A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+149A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+3993A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+149A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+149A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4689A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.624A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.687A>G
  hgvsp: ENST00000425239.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.667A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+149A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+149A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+149A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+149A>G
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro229Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

2-242598758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598758
    reference: chr 2
allele count: 3
allele frequency: 1.704158145875937e-4
allele num: 17604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+156C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.631C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+156C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.694C>T
  hgvsp: ENSP00000409895.1:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+156C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+156C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+156C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+156C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.674C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4696C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+156C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4000C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+156C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg232Trp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-242598763-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598763
    reference: chr 2
allele count: 5
allele frequency: 2.87455444406117e-4
allele num: 17394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.636G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.679G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+161G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+161G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+161G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.699G>T
  hgvsp: ENSP00000409895.1:p.Trp233Cys
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+161G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+161G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4005G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+161G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+161G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4701G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+161G>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Trp233Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-242598767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598767
    reference: chr 2
allele count: 3
allele frequency: 1.743172574084834e-4
allele num: 17210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+165C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.640C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+165C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+165C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+165C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+165C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+165C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.683C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+165C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4705C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.703C>T
  hgvsp: ENSP00000409895.1:p.Arg235Cys
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4009C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+165C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22956
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg235Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

2-242598771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598771
    reference: chr 2
allele count: 4
allele frequency: 2.351005054660868e-4
allele num: 17014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.687C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.707C>T
  hgvsp: ENSP00000409895.1:p.Ser236Phe
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4013C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.644C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+169C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4709C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser236Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

2-242598779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598779
    reference: chr 2
allele count: 18
allele frequency: 1.075911536162582e-3
allele num: 16730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+177C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+177C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+177C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+177C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+177C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+177C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+177C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.695C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.652C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4717C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4021C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.715C>T
  hgvsp: ENSP00000409895.1:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+177C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17417
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro239Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-242598780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598780
    reference: chr 2
allele count: 3
allele frequency: 1.796837565884044e-4
allele num: 16696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4718C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+178C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+178C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.653C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+178C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+178C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.716C>T
  hgvsp: ENSP00000409895.1:p.Pro239Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.696C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+178C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+178C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4022C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+178C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+178C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17104
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro239Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

2-242598783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598783
    reference: chr 2
allele count: 6
allele frequency: 3.618381377397178e-4
allele num: 16582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4721C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.656C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+181C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+181C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+181C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4025C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.719C>T
  hgvsp: ENSP00000409895.1:p.Ala240Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+181C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+181C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.699C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+181C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+181C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+181C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala240Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

2-242598784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598784
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598784
    reference: chr 2
allele count: 1
allele frequency: 6.039376736320811e-5
allele num: 16558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.700G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.720G>A
  hgvsp: ENST00000425239.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+182G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+182G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.657G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+182G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+182G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4722G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+182G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+182G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4026G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+182G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+182G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala240Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-242598804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598804
    reference: chr 2
allele count: 2
allele frequency: 1.295169019557052e-4
allele num: 15442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+202G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.740G>A
  hgvsp: ENSP00000409895.1:p.Ser247Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4742G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+202G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4046G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+202G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+202G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.720G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+202G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+202G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.677G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+202G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+202G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser247Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-242598805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598805
    reference: chr 2
allele count: 1
allele frequency: 6.540222367560497e-5
allele num: 15290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+203C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+203C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4743C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.741C>T
  hgvsp: ENST00000425239.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+203C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4047C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.678C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.721C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+203C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+203C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+203C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+203C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+203C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser247Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-242598823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598823
    reference: chr 2
allele count: 10
allele frequency: 7.6103500761035e-4
allele num: 13140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.739C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+221C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+221C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.759C>T
  hgvsp: ENST00000425239.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.696C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+221C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+221C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+221C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+221C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4761C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+221C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4065C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+221C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala253Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-242598824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598824
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598824
    reference: chr 2
allele count: 1
allele frequency: 7.686395080707149e-5
allele num: 13010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.760G>A
  hgvsp: ENSP00000409895.1:p.Ala254Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+222G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4066G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+222G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+222G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+222G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+222G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+222G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.697G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4762G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.740G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+222G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+222G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala254Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

2-242598825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598825
    reference: chr 2
allele count: 1
allele frequency: 7.79423226812159e-5
allele num: 12830
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+223C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+223C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.698C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4763C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+223C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.741C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+223C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+223C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+223C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4067C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.761C>T
  hgvsp: ENSP00000409895.1:p.Ala254Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+223C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+223C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala254Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-242598834-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598834
    reference: chr 2
allele count: 2
allele frequency: 1.689189189189189e-4
allele num: 11840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4772A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4076A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.770A>G
  hgvsp: ENSP00000409895.1:p.Tyr257Cys
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+232A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.750A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+232A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+232A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+232A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.707A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+232A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+232A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+232A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+232A>G
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr257Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-242598840-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598840
    reference: chr 2
allele count: 1
allele frequency: 9.010632546404758e-5
allele num: 11098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4778C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.776C>G
  hgvsp: ENSP00000409895.1:p.Thr259Arg
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+238C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+238C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+238C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+238C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.713C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+238C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+238C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+238C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.756C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4082C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+238C>G
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr259Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-242598853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598853
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 9816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+251G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+251G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4095G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.726G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4791G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+251G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+251G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+251G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000409895
  ensembl transcript: ENST00000425239
  gene symbol: ATG4B
  hgvsc: ENST00000425239.1:c.789G>A
  hgvsp: ENST00000425239.1:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.769G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+251G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+251G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+251G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val263Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-242598868-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242598868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242598868
    reference: chr 2
allele count: 3
allele frequency: 3.611846857693234e-4
allele num: 8306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.316+266C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.316+266C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000483778
  gene symbol: ATG4B
  hgvsc: ENST00000483778.1:n.784C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*364+266C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.538+266C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.496+266C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.601+4110C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000493618
  gene symbol: ATG4B
  hgvsc: ENST00000493618.1:n.741C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.316+266C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.538+266C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.385+4806C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.618+266C>A
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

2-242605962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605962
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605962
    reference: chr 2
allele count: 6904
allele frequency: 2.365031515483694e-1
allele num: 29192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-98C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-98C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 16880
  bin: 2.5e0
  variant carriers: 1797
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 1.25e1
  variant carriers: 2396
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 643
genotype depth: GenotypeDepth
  all individuals: 25025
  bin: 7.5e0
  variant carriers: 7687
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.25e1
  variant carriers: 728
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 1.75e1
  variant carriers: 882
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 9162
  bin: 7.5e0
  variant carriers: 603
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 569
genotype quality: GenotypeQuality
  all individuals: 7355
  bin: 2.25e1
  variant carriers: 958
num of homozygotes: 831
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-242605963-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605963
    reference: chr 2
allele count: 7
allele frequency: 2.37111306822031e-4
allele num: 29522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-97G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-97G>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25025
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7077
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-242605963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605963
    reference: chr 2
allele count: 2
allele frequency: 6.774608766343743e-5
allele num: 29522
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-97G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-97G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25025
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12026
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

2-242605965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605965
    reference: chr 2
allele count: 1
allele frequency: 3.359989248034406e-5
allele num: 29762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-95C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-95C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

2-242605976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605976
    reference: chr 2
allele count: 1
allele frequency: 3.27847354271851e-5
allele num: 30502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-84T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-84T>C
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27623
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20797
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-242605980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605980
    reference: chr 2
allele count: 1
allele frequency: 3.21316110789795e-5
allele num: 31122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-80C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-80C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-242605981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605981
    reference: chr 2
allele count: 3
allele frequency: 9.56327701625757e-5
allele num: 31370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-79A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-79A>G
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29642
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-242605982-GTCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605979
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 31456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-73_602-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-73_317-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-73_539-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-73_386-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-73_497-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-73_317-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-73_*365-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-73_317-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-73_539-71delCAT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-73_619-71delCAT
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29982
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: GTCA
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-242605985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605985
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605985
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 32386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-75A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-75A>G
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31214
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11099
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-242605986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605986
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605986
    reference: chr 2
allele count: 1
allele frequency: 3.070498648980594e-5
allele num: 32568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-74T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-74T>C
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

2-242605994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605994
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605994
    reference: chr 2
allele count: 1
allele frequency: 2.869769844458474e-5
allele num: 34846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-66T>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-66T>C
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-242605997-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242605997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242605997
    reference: chr 2
allele count: 1
allele frequency: 2.787534147293304e-5
allele num: 35874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-63C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-63C>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6905
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-242606004-TGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606002
    reference: chr 2
allele count: 1
allele frequency: 2.535239833688267e-5
allele num: 39444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-54_539-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-54_602-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-54_317-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-54_*365-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-54_619-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-54_386-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-54_497-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-54_539-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-54_317-53delGG
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-54_317-53delGG
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: TGG
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-242606005-G-GAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606007
    reference: chr 2
allele count: 50
allele frequency: 1.24619909276706e-3
allele num: 40122
alternate allele: GAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-55_539-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-55_386-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-55_619-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-55_317-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-55_539-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-55_317-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-55_*365-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-55_497-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-55_602-54insAA
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-55_317-54insAA
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35353
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-242606006-G-GTGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606010
    reference: chr 2
allele count: 54
allele frequency: 1.313549014838239e-3
allele num: 41110
alternate allele: GTGCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-54_317-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-54_539-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-54_317-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-54_539-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-54_497-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-54_*365-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-54_602-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-54_619-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-54_317-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-54_386-53insTGCT
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35178
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7783
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-242606008-A-AAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606011
    reference: chr 2
allele count: 1
allele frequency: 2.333940157774355e-5
allele num: 42846
alternate allele: AAGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-52_317-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-52_602-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-52_497-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-52_619-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-52_539-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-52_*365-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-52_317-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-52_317-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-52_539-51insAGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-52_386-51insAGT
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-242606008-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606008
    reference: chr 2
allele count: 57
allele frequency: 1.330345889931382e-3
allele num: 42846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-52A>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-52A>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34926
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-242606009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606009
    reference: chr 2
allele count: 1
allele frequency: 2.305422353375138e-5
allele num: 43376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-51G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-51G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-242606010-C-CTGTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606015
    reference: chr 2
allele count: 1
allele frequency: 2.251339547030483e-5
allele num: 44418
alternate allele: CTGTGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-50_317-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-50_619-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-50_*365-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-50_386-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-50_497-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-50_539-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-50_602-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-50_317-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-50_317-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-50_539-49insTGTGT
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-242606027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606027
    reference: chr 2
allele count: 1
allele frequency: 1.484163970435454e-5
allele num: 67378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.17G>A
  hgvsp: ENSP00000404783.1:p.Cys6Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-33G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-33G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys6Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-242606027-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606027
    reference: chr 2
allele count: 2
allele frequency: 2.968327940870907e-5
allele num: 67378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-33G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.17G>T
  hgvsp: ENSP00000404783.1:p.Cys6Phe
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-33G>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19711
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys6Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-242606036-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606036
    reference: chr 2
allele count: 42590
allele frequency: 4.193249842470069e-1
allele num: 101568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.26G>C
  hgvsp: ENSP00000404783.1:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-24G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-24G>C
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 18436
  bin: 2.25e1
  variant carriers: 7628
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 382
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.75e1
  variant carriers: 5078
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 1.25e1
  variant carriers: 4453
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1325
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 1267
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 7.5e0
  variant carriers: 943
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 1.75e1
  variant carriers: 7929
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 3.25e1
  variant carriers: 2620
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 460
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 344
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 425
hgvs: p.Ser9Thr
num of homozygotes: 8096
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-242606036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606036
    reference: chr 2
allele count: 1
allele frequency: 9.845620667926906e-6
allele num: 101568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-24G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.26G>A
  hgvsp: ENSP00000404783.1:p.Ser9Asn
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser9Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-242606043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606043
    reference: chr 2
allele count: 1
allele frequency: 9.483706991388795e-6
allele num: 105444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.33C>T
  hgvsp: ENST00000428861.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-17C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-17C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser11Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-242606052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606052
    reference: chr 2
allele count: 149
allele frequency: 1.379348651200681e-3
allele num: 108022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.497-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.619-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.602-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*365-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.317-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.317-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.386-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.317-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.539-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.539-8C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.42C>T
  hgvsp: ENST00000428861.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29012
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.539-8C>T
num of homozygotes: 4
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-242606070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606070
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606070
    reference: chr 2
allele count: 4
allele frequency: 3.614087713908817e-5
allele num: 110678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.629C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.327C>T
  hgvsp: ENST00000429899.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.612C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.327C>T
  hgvsp: ENST00000402096.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.396C>T
  hgvsp: ENST00000400771.3:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.549C>T
  hgvsp: ENST00000405546.3:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.507C>T
  hgvsp: ENST00000474739.2:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.549C>T
  hgvsp: ENST00000404914.3:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*375C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.327C>T
  hgvsp: ENST00000396411.3:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.60C>T
  hgvsp: ENST00000428861.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32010
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys183Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

2-242606080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606080
    reference: chr 2
allele count: 807
allele frequency: 7.253932584269663e-3
allele num: 111250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.622G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.70G>A
  hgvsp: ENSP00000404783.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.337G>A
  hgvsp: ENSP00000379692.3:p.Val113Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.639G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.559G>A
  hgvsp: ENSP00000384259.3:p.Val187Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.559G>A
  hgvsp: ENSP00000383964.3:p.Val187Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.337G>A
  hgvsp: ENSP00000410526.1:p.Val113Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.337G>A
  hgvsp: ENSP00000384661.1:p.Val113Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.406G>A
  hgvsp: ENSP00000383582.3:p.Val136Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.517G>A
  hgvsp: ENSP00000442378.1:p.Val173Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*385G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 31769
  bin: 2.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 1.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 2.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
hgvs: p.Val187Ile
num of homozygotes: 8
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-242606080-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606080
    reference: chr 2
allele count: 2
allele frequency: 1.797752808988764e-5
allele num: 111250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.559G>C
  hgvsp: ENSP00000383964.3:p.Val187Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*385G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.406G>C
  hgvsp: ENSP00000383582.3:p.Val136Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.337G>C
  hgvsp: ENSP00000384661.1:p.Val113Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.622G>C
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.70G>C
  hgvsp: ENSP00000404783.1:p.Val24Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.517G>C
  hgvsp: ENSP00000442378.1:p.Val173Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.337G>C
  hgvsp: ENSP00000379692.3:p.Val113Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.337G>C
  hgvsp: ENSP00000410526.1:p.Val113Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.559G>C
  hgvsp: ENSP00000384259.3:p.Val187Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.639G>C
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val187Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-242606083-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606083
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606083
    reference: chr 2
allele count: 28
allele frequency: 2.521931799758615e-4
allele num: 111026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.409C>G
  hgvsp: ENSP00000383582.3:p.Pro137Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.340C>G
  hgvsp: ENSP00000410526.1:p.Pro114Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.562C>G
  hgvsp: ENSP00000383964.3:p.Pro188Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.73C>G
  hgvsp: ENSP00000404783.1:p.Pro25Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.562C>G
  hgvsp: ENSP00000384259.3:p.Pro188Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.340C>G
  hgvsp: ENSP00000379692.3:p.Pro114Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.642C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.340C>G
  hgvsp: ENSP00000384661.1:p.Pro114Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.520C>G
  hgvsp: ENSP00000442378.1:p.Pro174Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.625C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*388C>G
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31624
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro188Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-242606087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606087
    reference: chr 2
allele count: 2
allele frequency: 1.809037953616267e-5
allele num: 110556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.77G>A
  hgvsp: ENSP00000404783.1:p.Cys26Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.344G>A
  hgvsp: ENSP00000410526.1:p.Cys115Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.566G>A
  hgvsp: ENSP00000384259.3:p.Cys189Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.344G>A
  hgvsp: ENSP00000379692.3:p.Cys115Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.566G>A
  hgvsp: ENSP00000383964.3:p.Cys189Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.344G>A
  hgvsp: ENSP00000384661.1:p.Cys115Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.629G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.646G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*392G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.524G>A
  hgvsp: ENSP00000442378.1:p.Cys175Tyr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.413G>A
  hgvsp: ENSP00000383582.3:p.Cys138Tyr
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14834
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys189Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-242606094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606094
    reference: chr 2
allele count: 2
allele frequency: 1.824351443061992e-5
allele num: 109628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.351C>T
  hgvsp: ENST00000396411.3:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.351C>T
  hgvsp: ENST00000402096.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.84C>T
  hgvsp: ENST00000428861.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.531C>T
  hgvsp: ENST00000474739.2:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.573C>T
  hgvsp: ENST00000404914.3:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*399C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.351C>T
  hgvsp: ENST00000429899.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.420C>T
  hgvsp: ENST00000400771.3:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.653C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.573C>T
  hgvsp: ENST00000405546.3:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.636C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly191Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

2-242606095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606095
    reference: chr 2
allele count: 6
allele frequency: 5.482856933986402e-5
allele num: 109432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.654G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.421G>A
  hgvsp: ENSP00000383582.3:p.Ala141Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.574G>A
  hgvsp: ENSP00000383964.3:p.Ala192Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.352G>A
  hgvsp: ENSP00000379692.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.637G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.532G>A
  hgvsp: ENSP00000442378.1:p.Ala178Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.352G>A
  hgvsp: ENSP00000410526.1:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*400G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.352G>A
  hgvsp: ENSP00000384661.1:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.574G>A
  hgvsp: ENSP00000384259.3:p.Ala192Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.85G>A
  hgvsp: ENSP00000404783.1:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15245
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29376
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala192Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-242606098-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606098
    reference: chr 2
allele count: 1
allele frequency: 9.175153683824204e-6
allele num: 108990
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.577A>G
  hgvsp: ENSP00000384259.3:p.Thr193Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.355A>G
  hgvsp: ENSP00000379692.3:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.535A>G
  hgvsp: ENSP00000442378.1:p.Thr179Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.355A>G
  hgvsp: ENSP00000410526.1:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.355A>G
  hgvsp: ENSP00000384661.1:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.424A>G
  hgvsp: ENSP00000383582.3:p.Thr142Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.577A>G
  hgvsp: ENSP00000383964.3:p.Thr193Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.657A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.88A>G
  hgvsp: ENSP00000404783.1:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*403A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.640A>G
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr193Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

2-242606099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606099
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606099
    reference: chr 2
allele count: 9
allele frequency: 8.320544348501378e-5
allele num: 108166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.578C>T
  hgvsp: ENSP00000384259.3:p.Thr193Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.658C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.356C>T
  hgvsp: ENSP00000410526.1:p.Thr119Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.641C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.356C>T
  hgvsp: ENSP00000379692.3:p.Thr119Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.536C>T
  hgvsp: ENSP00000442378.1:p.Thr179Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.89C>T
  hgvsp: ENSP00000404783.1:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.578C>T
  hgvsp: ENSP00000383964.3:p.Thr193Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.425C>T
  hgvsp: ENSP00000383582.3:p.Thr142Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.356C>T
  hgvsp: ENSP00000384661.1:p.Thr119Ile
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*404C>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr193Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-242606101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606101
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606101
    reference: chr 2
allele count: 1
allele frequency: 9.243852837862821e-6
allele num: 108180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*406G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.91G>A
  hgvsp: ENSP00000404783.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.358G>A
  hgvsp: ENSP00000379692.3:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.538G>A
  hgvsp: ENSP00000442378.1:p.Ala180Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.580G>A
  hgvsp: ENSP00000383964.3:p.Ala194Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.358G>A
  hgvsp: ENSP00000410526.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.580G>A
  hgvsp: ENSP00000384259.3:p.Ala194Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.358G>A
  hgvsp: ENSP00000384661.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.427G>A
  hgvsp: ENSP00000383582.3:p.Ala143Thr
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.643G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.660G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala194Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-242606103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606103
    reference: chr 2
allele count: 32
allele frequency: 2.975138994774912e-4
allele num: 107558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.93G>A
  hgvsp: ENST00000428861.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.360G>A
  hgvsp: ENST00000396411.3:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.429G>A
  hgvsp: ENST00000400771.3:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.360G>A
  hgvsp: ENST00000402096.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.645G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.662G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.540G>A
  hgvsp: ENST00000474739.2:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*408G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.582G>A
  hgvsp: ENST00000405546.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.582G>A
  hgvsp: ENST00000404914.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.360G>A
  hgvsp: ENST00000429899.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27545
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala194Ala
num of homozygotes: 1
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-242606104-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606104
    reference: chr 2
allele count: 23
allele frequency: 2.137308106902576e-4
allele num: 107612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.430T>G
  hgvsp: ENSP00000383582.3:p.Phe144Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.541T>G
  hgvsp: ENSP00000442378.1:p.Phe181Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.361T>G
  hgvsp: ENSP00000384661.1:p.Phe121Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.361T>G
  hgvsp: ENSP00000379692.3:p.Phe121Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.583T>G
  hgvsp: ENSP00000384259.3:p.Phe195Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*409T>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.583T>G
  hgvsp: ENSP00000383964.3:p.Phe195Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.94T>G
  hgvsp: ENSP00000404783.1:p.Phe32Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.646T>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.663T>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.361T>G
  hgvsp: ENSP00000410526.1:p.Phe121Val
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27642
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe195Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-242606106-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606106
    reference: chr 2
allele count: 1
allele frequency: 9.438058025180738e-6
allele num: 105954
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.585T>G
  hgvsp: ENSP00000384259.3:p.Phe195Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.665T>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.363T>G
  hgvsp: ENSP00000410526.1:p.Phe121Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.432T>G
  hgvsp: ENSP00000383582.3:p.Phe144Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.585T>G
  hgvsp: ENSP00000383964.3:p.Phe195Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.543T>G
  hgvsp: ENSP00000442378.1:p.Phe181Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*411T>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.363T>G
  hgvsp: ENSP00000384661.1:p.Phe121Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.96T>G
  hgvsp: ENSP00000404783.1:p.Phe32Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.363T>G
  hgvsp: ENSP00000379692.3:p.Phe121Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.648T>G
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe195Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-242606111-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606111
    reference: chr 2
allele count: 2
allele frequency: 1.906432302588935e-5
allele num: 104908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.368C>A
  hgvsp: ENSP00000410526.1:p.Ala123Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.548C>A
  hgvsp: ENSP00000442378.1:p.Ala183Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.101C>A
  hgvsp: ENSP00000404783.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.653C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.590C>A
  hgvsp: ENSP00000383964.3:p.Ala197Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.368C>A
  hgvsp: ENSP00000384661.1:p.Ala123Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.590C>A
  hgvsp: ENSP00000384259.3:p.Ala197Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.368C>A
  hgvsp: ENSP00000379692.3:p.Ala123Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*416C>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.437C>A
  hgvsp: ENSP00000383582.3:p.Ala146Glu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.670C>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala197Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

2-242606111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606111
    reference: chr 2
allele count: 1
allele frequency: 9.532161512944676e-6
allele num: 104908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.670C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.368C>T
  hgvsp: ENSP00000379692.3:p.Ala123Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.101C>T
  hgvsp: ENSP00000404783.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.590C>T
  hgvsp: ENSP00000383964.3:p.Ala197Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.653C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.590C>T
  hgvsp: ENSP00000384259.3:p.Ala197Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.368C>T
  hgvsp: ENSP00000384661.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.437C>T
  hgvsp: ENSP00000383582.3:p.Ala146Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.548C>T
  hgvsp: ENSP00000442378.1:p.Ala183Val
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*416C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.368C>T
  hgvsp: ENSP00000410526.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala197Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

2-242606114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606114
    reference: chr 2
allele count: 3
allele frequency: 2.877532228360958e-5
allele num: 104256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.593A>G
  hgvsp: ENSP00000384259.3:p.Asp198Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.371A>G
  hgvsp: ENSP00000384661.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.440A>G
  hgvsp: ENSP00000383582.3:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.593A>G
  hgvsp: ENSP00000383964.3:p.Asp198Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.656A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.551A>G
  hgvsp: ENSP00000442378.1:p.Asp184Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.371A>G
  hgvsp: ENSP00000410526.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.104A>G
  hgvsp: ENSP00000404783.1:p.Asp35Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.371A>G
  hgvsp: ENSP00000379692.3:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*419A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.673A>G
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp198Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-242606119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606119
    reference: chr 2
allele count: 42
allele frequency: 4.120313143798929e-4
allele num: 101934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.109G>A
  hgvsp: ENSP00000404783.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.376G>A
  hgvsp: ENSP00000410526.1:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.556G>A
  hgvsp: ENSP00000442378.1:p.Asp186Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.376G>A
  hgvsp: ENSP00000379692.3:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*424G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.678G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.598G>A
  hgvsp: ENSP00000384259.3:p.Asp200Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.445G>A
  hgvsp: ENSP00000383582.3:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.376G>A
  hgvsp: ENSP00000384661.1:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.598G>A
  hgvsp: ENSP00000383964.3:p.Asp200Asn
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.661G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23680
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13210
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp200Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-242606123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606123
    reference: chr 2
allele count: 2
allele frequency: 1.991555803393611e-5
allele num: 100424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.560G>A
  hgvsp: ENSP00000442378.1:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.380G>A
  hgvsp: ENSP00000379692.3:p.Arg127Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.602G>A
  hgvsp: ENSP00000384259.3:p.Arg201Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.113G>A
  hgvsp: ENSP00000404783.1:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.380G>A
  hgvsp: ENSP00000384661.1:p.Arg127Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.682G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.665G>A
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.602G>A
  hgvsp: ENSP00000383964.3:p.Arg201Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.380G>A
  hgvsp: ENSP00000410526.1:p.Arg127Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.449G>A
  hgvsp: ENSP00000383582.3:p.Arg150Gln
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*428G>A
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg201Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-242606123-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606123
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 100424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.380G>T
  hgvsp: ENSP00000384661.1:p.Arg127Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.449G>T
  hgvsp: ENSP00000383582.3:p.Arg150Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.380G>T
  hgvsp: ENSP00000379692.3:p.Arg127Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.560G>T
  hgvsp: ENSP00000442378.1:p.Arg187Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.113G>T
  hgvsp: ENSP00000404783.1:p.Arg38Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.602G>T
  hgvsp: ENSP00000383964.3:p.Arg201Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.380G>T
  hgvsp: ENSP00000410526.1:p.Arg127Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.665G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.682G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.602G>T
  hgvsp: ENSP00000384259.3:p.Arg201Leu
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*428G>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 22886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg201Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-242606124-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606124
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606124
    reference: chr 2
allele count: 1
allele frequency: 1.005793369810106e-5
allele num: 99424
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.603G>T
  hgvsp: ENST00000404914.3:c.603G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.381G>T
  hgvsp: ENST00000402096.1:c.381G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.603G>T
  hgvsp: ENST00000405546.3:c.603G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.381G>T
  hgvsp: ENST00000429899.1:c.381G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.561G>T
  hgvsp: ENST00000474739.2:c.561G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.450G>T
  hgvsp: ENST00000400771.3:c.450G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.114G>T
  hgvsp: ENST00000428861.1:c.114G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.683G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.381G>T
  hgvsp: ENST00000396411.3:c.381G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*429G>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.666G>T
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg201Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-242606132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606132
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606132
    reference: chr 2
allele count: 1
allele frequency: 1.033057851239669e-5
allele num: 96800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.611A>G
  hgvsp: ENSP00000383964.3:p.Asn204Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.611A>G
  hgvsp: ENSP00000384259.3:p.Asn204Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.389A>G
  hgvsp: ENSP00000384661.1:p.Asn130Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.458A>G
  hgvsp: ENSP00000383582.3:p.Asn153Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.122A>G
  hgvsp: ENSP00000404783.1:p.Asn41Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*437A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.389A>G
  hgvsp: ENSP00000410526.1:p.Asn130Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.569A>G
  hgvsp: ENSP00000442378.1:p.Asn190Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.691A>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.389A>G
  hgvsp: ENSP00000379692.3:p.Asn130Ser
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.674A>G
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20667
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9518
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn204Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-242606133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606133
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606133
    reference: chr 2
allele count: 376
allele frequency: 3.927303112596616e-3
allele num: 95740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.570C>T
  hgvsp: ENST00000474739.2:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.692C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.459C>T
  hgvsp: ENST00000400771.3:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.675C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.390C>T
  hgvsp: ENST00000429899.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*438C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.612C>T
  hgvsp: ENST00000404914.3:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.390C>T
  hgvsp: ENST00000396411.3:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.390C>T
  hgvsp: ENST00000402096.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.123C>T
  hgvsp: ENST00000428861.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.612C>T
  hgvsp: ENST00000405546.3:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 2.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 19974
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 1.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asn204Asn
num of homozygotes: 4
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-242606144-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606144
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606144
    reference: chr 2
allele count: 13
allele frequency: 1.467633046580415e-4
allele num: 88578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.581C>G
  hgvsp: ENSP00000442378.1:p.Ala194Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.623C>G
  hgvsp: ENSP00000384259.3:p.Ala208Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.623C>G
  hgvsp: ENSP00000383964.3:p.Ala208Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*449C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.401C>G
  hgvsp: ENSP00000410526.1:p.Ala134Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.401C>G
  hgvsp: ENSP00000379692.3:p.Ala134Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.703C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.134C>G
  hgvsp: ENSP00000404783.1:p.Ala45Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.686C>G
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.401C>G
  hgvsp: ENSP00000384661.1:p.Ala134Gly
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.470C>G
  hgvsp: ENSP00000383582.3:p.Ala157Gly
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15683
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala208Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-242606145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242606145
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242606145
    reference: chr 2
allele count: 6
allele frequency: 6.836827711941659e-5
allele num: 87760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384661
  ensembl transcript: ENST00000402096
  gene symbol: ATG4B
  hgvsc: ENST00000402096.1:c.402C>T
  hgvsp: ENST00000402096.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000482507
  gene symbol: ATG4B
  hgvsc: ENST00000482507.1:n.704C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000442378
  ensembl transcript: ENST00000474739
  gene symbol: ATG4B
  hgvsc: ENST00000474739.2:c.582C>T
  hgvsp: ENST00000474739.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383964
  ensembl transcript: ENST00000405546
  gene symbol: ATG4B
  hgvsc: ENST00000405546.3:c.624C>T
  hgvsp: ENST00000405546.3:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168397
  ensembl transcript: ENST00000494465
  gene symbol: ATG4B
  hgvsc: ENST00000494465.1:n.687C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000379692
  ensembl transcript: ENST00000396411
  gene symbol: ATG4B
  hgvsc: ENST00000396411.3:c.402C>T
  hgvsp: ENST00000396411.3:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000384259
  ensembl transcript: ENST00000404914
  gene symbol: ATG4B
  hgvsc: ENST00000404914.3:c.624C>T
  hgvsp: ENST00000404914.3:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000404783
  ensembl transcript: ENST00000428861
  gene symbol: ATG4B
  hgvsc: ENST00000428861.1:c.135C>T
  hgvsp: ENST00000428861.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000344960
  ensembl transcript: ENST00000344376
  gene symbol: ATG4B
  hgvsc: ENST00000344376.5:c.*450C>T
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000383582
  ensembl transcript: ENST00000400771
  gene symbol: ATG4B
  hgvsc: ENST00000400771.3:c.471C>T
  hgvsp: ENST00000400771.3:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168397
  ensembl protein: ENSP00000410526
  ensembl transcript: ENST00000429899
  gene symbol: ATG4B
  hgvsc: ENST00000429899.1:c.402C>T
  hgvsp: ENST00000429899.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15683
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ala208Ala
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 613
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28656
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 683
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 386
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

QD
type: SiteQuality
SIO_000300: 2.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 3.24334e5

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

GenotypeDepth
all individuals: 4511
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.672897196261682e-3
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.232e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 3.17202e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.86e-2

QD
type: SiteQuality
SIO_000300: 5.4e0

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23294
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1670
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.677289500167729e-4
allele num: 5962
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.891050583657588e-3
allele num: 514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.94298e5

FS
type: SiteQuality
SIO_000300: 1.1977e1

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.969999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 24
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22410
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.454944487477407e-4
allele num: 7746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 1.1894e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.94e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 2.88358e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1980
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.754385964912281e-4
allele num: 5700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.58732212160414e-4
allele num: 7730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.82088e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

FS
type: SiteQuality
SIO_000300: 1.056e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-2

GenotypeDepth
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bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29
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variant carriers: 1

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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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.188067444876783e-4
allele num: 7710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 2.74288e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.679999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.242e1

FS
type: SiteQuality
SIO_000300: 5.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.715e0

VQSLOD
type: SiteQuality
SIO_000300: -1.168e0

GenotypeDepth
all individuals: 287
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5756
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
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variant carriers: 1

GenotypeQuality
all individuals: 94
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15599
bin: 7.5e0
variant carriers: 3

African
type: Population
allele count: 18
allele frequency: 1.711026615969582e-2
allele num: 1052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 2.59626e5

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.23e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 612
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 2000
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variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 5737
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variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 499
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variant carriers: 3

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 15283
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GenotypeQuality
all individuals: 1975
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GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.932878867330886e-4
allele num: 7628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -5.315e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.58024e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.36e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.016e1

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
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variant carriers: 0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 503
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variant carriers: 6

GenotypeQuality
all individuals: 126
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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
all individuals: 14676
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GenotypeQuality
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GenotypeQuality
all individuals: 5670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.75e1
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GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.126549004881712e-3
allele num: 5326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
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SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 2.54938e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 95
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variant carriers: 0

GenotypeDepth
all individuals: 106
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variant carriers: 0

GenotypeDepth
all individuals: 1992
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 14562
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.321003963011889e-4
allele num: 7570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.53736e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

ClippingRankSum
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SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.26e-2

FS
type: SiteQuality
SIO_000300: 1.752e0

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeDepth
all individuals: 28
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 0
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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
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 2.5e0
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GenotypeQuality
all individuals: 10738
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
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allele count: 2
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allele num: 6898
num of homozygotes: 0

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

DP
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SIO_000300: 2.28853e5

MQRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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
allele num: 476
num of homozygotes: 0

European (Finnish)
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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
allele num: 6796
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.028397565922921e-4
allele num: 4930
num of homozygotes: 0

Latino
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Other
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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DP
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QD
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MQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

South Asian
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allele frequency: 1.869857890800299e-3
allele num: 5348
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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Latino
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -4.4e-2

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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FS
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DP
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ReadPosRankSum
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SIO_000300: -2.22e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.309468822170901e-4
allele num: 4330
num of homozygotes: 0

African
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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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East Asian
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South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

MQ
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -5.3e-2

DP
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MQRankSum
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SIO_000300: 1.85e0

FS
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SIO_000300: 0.0e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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African
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Other
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East Asian
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Latino
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South Asian
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allele num: 5140
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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BaseQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 1.173708920187793e-3
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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DP
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FS
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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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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num of homozygotes: 0

African
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Latino
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South Asian
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European (Finnish)
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East Asian
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Other
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3128
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.50028e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.92e-2

QD
type: SiteQuality
SIO_000300: 5.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.002e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeDepth
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.629629629629629e-3
allele num: 216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.443298969072165e-4
allele num: 3104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 1.36753e5

QD
type: SiteQuality
SIO_000300: 1.066e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.117e-1

GenotypeQuality
all individuals: 8194
bin: 9.75e1
variant carriers: 7169

GenotypeQuality
all individuals: 7225
bin: 1.75e1
variant carriers: 1026

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 217

GenotypeQuality
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bin: 2.5e0
variant carriers: 19

GenotypeQuality
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bin: 3.75e1
variant carriers: 123

GenotypeQuality
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bin: 5.75e1
variant carriers: 529

GenotypeQuality
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bin: 4.25e1
variant carriers: 70

GenotypeQuality
all individuals: 996
bin: 6.75e1
variant carriers: 436

GenotypeQuality
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bin: 5.25e1
variant carriers: 293

GenotypeQuality
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bin: 4.75e1
variant carriers: 172

GenotypeQuality
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bin: 3.25e1
variant carriers: 409

GenotypeQuality
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bin: 1.25e1
variant carriers: 619

GenotypeQuality
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bin: 8.75e1
variant carriers: 480

GenotypeQuality
all individuals: 2159
bin: 2.75e1
variant carriers: 760

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 215

GenotypeQuality
all individuals: 445
bin: 7.75e1
variant carriers: 139

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 791

East Asian
type: Population
allele count: 424
allele frequency: 3.045977011494253e-1
allele num: 1392
num of homozygotes: 55

Latino
type: Population
allele count: 238
allele frequency: 2.51585623678647e-1
allele num: 946
num of homozygotes: 26

European (Non-Finnish)
type: Population
allele count: 3164
allele frequency: 2.407914764079148e-1
allele num: 13140
num of homozygotes: 353

European (Finnish)
type: Population
allele count: 740
allele frequency: 2.955271565495208e-1
allele num: 2504
num of homozygotes: 121

Other
type: Population
allele count: 70
allele frequency: 2.348993288590604e-1
allele num: 298
num of homozygotes: 9

African
type: Population
allele count: 278
allele frequency: 1.078355314197052e-1
allele num: 2578
num of homozygotes: 14

South Asian
type: Population
allele count: 1990
allele frequency: 2.387808975281978e-1
allele num: 8334
num of homozygotes: 253

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

FS
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.017e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 5.85803e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.902e1

GenotypeQuality
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9891
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 7
allele frequency: 8.379219535551831e-4
allele num: 8354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 1.0761e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.678e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 5.69195e5

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7077
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9891
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
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variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.891050583657588e-4
allele num: 2570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.468259895444362e-5
allele num: 13390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 950
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.69195e5

VQSLOD
type: SiteQuality
SIO_000300: -9.678e-1

FS
type: SiteQuality
SIO_000300: 1.0761e1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 2507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 2.5e0
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GenotypeQuality
all individuals: 6930
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variant carriers: 0

GenotypeQuality
all individuals: 14117
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variant carriers: 0

GenotypeQuality
all individuals: 663
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variant carriers: 0

GenotypeQuality
all individuals: 8079
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variant carriers: 0

GenotypeQuality
all individuals: 13609
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GenotypeQuality
all individuals: 230
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GenotypeQuality
all individuals: 421
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 527
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GenotypeQuality
all individuals: 1589
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variant carriers: 1

GenotypeQuality
all individuals: 1079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.395355716609969e-5
allele num: 13522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

QD
type: SiteQuality
SIO_000300: 5.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.674e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.74584e5

GenotypeQuality
all individuals: 532
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
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GenotypeQuality
all individuals: 734
bin: 2.5e0
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GenotypeQuality
all individuals: 13515
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GenotypeQuality
all individuals: 2549
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variant carriers: 0

GenotypeQuality
all individuals: 2527
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GenotypeQuality
all individuals: 328
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GenotypeQuality
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GenotypeQuality
all individuals: 5036
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GenotypeQuality
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GenotypeQuality
all individuals: 183
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GenotypeQuality
all individuals: 1597
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 3848
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GenotypeQuality
all individuals: 1133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.166403898523721e-5
allele num: 13954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 6.05726e5

QD
type: SiteQuality
SIO_000300: 9.18e0

GenotypeQuality
all individuals: 440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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GenotypeQuality
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GenotypeQuality
all individuals: 4082
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GenotypeQuality
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GenotypeQuality
all individuals: 63
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23704
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 4253
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variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.970584134950509e-5
allele num: 14346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

VQSLOD
type: SiteQuality
SIO_000300: -6.546e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

DP
type: SiteQuality
SIO_000300: 6.23513e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 3.25e1
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GenotypeQuality
all individuals: 24484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
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GenotypeQuality
all individuals: 2620
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 250
bin: 9.25e1
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GenotypeQuality
all individuals: 12382
bin: 7.5e0
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GenotypeQuality
all individuals: 1023
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.75e1
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GenotypeQuality
all individuals: 1606
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.64963503649635e-4
allele num: 2740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.381597126277977e-4
allele num: 14476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.185e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.39e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14530
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 6.31657e5

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.45535e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.591957811470006e-5
allele num: 15170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.507e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 6.48381e5

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

GenotypeQuality
all individuals: 258
bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.017571308220002e-5
allele num: 16618
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 6.83727e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.099e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e0

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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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 5.795085767269355e-5
allele num: 17256
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: -1.246e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

DP
type: SiteQuality
SIO_000300: 6.99439e5

ReadPosRankSum
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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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19474
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.910360884749709e-4
allele num: 3436
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.069e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
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African
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allele count: 46
allele frequency: 1.287073307218803e-2
allele num: 3574
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: 2
allele frequency: 1.008572869389813e-4
allele num: 19830
num of homozygotes: 0

Latino
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allele frequency: 1.16144018583043e-3
allele num: 1722
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 7.46467e5

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.24e-2

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 50
allele frequency: 1.36986301369863e-2
allele num: 3650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.778994719342852e-5
allele num: 20452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2998
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.103752759381898e-3
allele num: 1812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.709e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.96e-1

DP
type: SiteQuality
SIO_000300: 7.52703e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.15e1

GenotypeQuality
all individuals: 1182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 7.5e0
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GenotypeQuality
all individuals: 33389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.25e1
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GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.634351949420442e-4
allele num: 3796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 3.828e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.52e0

DP
type: SiteQuality
SIO_000300: 7.65028e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 5.15e1

GenotypeQuality
all individuals: 1182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 220
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variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
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GenotypeQuality
all individuals: 1201
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variant carriers: 0

GenotypeQuality
all individuals: 533
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33389
bin: 2.25e1
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GenotypeQuality
all individuals: 1452
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variant carriers: 0

GenotypeQuality
all individuals: 8296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 60

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.295408068414203e-5
allele num: 21516
num of homozygotes: 0

African
type: Population
allele count: 52
allele frequency: 1.36986301369863e-2
allele num: 3796
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.535312180143296e-3
allele num: 1954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQ
type: SiteQuality
SIO_000300: 5.15e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.265e1

FS
type: SiteQuality
SIO_000300: 3.828e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.52e0

DP
type: SiteQuality
SIO_000300: 7.65028e5

GenotypeQuality
all individuals: 405
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32936
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variant carriers: 0

GenotypeQuality
all individuals: 795
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variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 3499
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GenotypeQuality
all individuals: 1458
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variant carriers: 0

GenotypeQuality
all individuals: 2686
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variant carriers: 0

GenotypeQuality
all individuals: 669
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variant carriers: 0

GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.056189269117026e-4
allele num: 9468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.655e0

DP
type: SiteQuality
SIO_000300: 7.70639e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.5e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.867e0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
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variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
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variant carriers: 0

GenotypeQuality
all individuals: 406
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variant carriers: 0

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2102
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.587991718426501e-4
allele num: 3864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.405e0

FS
type: SiteQuality
SIO_000300: 2.269e0

DP
type: SiteQuality
SIO_000300: 7.77906e5

QD
type: SiteQuality
SIO_000300: 1.18e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.751e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 25777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
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GenotypeQuality
all individuals: 842
bin: 7.75e1
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GenotypeQuality
all individuals: 1165
bin: 3.75e1
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GenotypeQuality
all individuals: 2206
bin: 6.75e1
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GenotypeQuality
all individuals: 2068
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.756035718222908e-5
allele num: 36284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 9.6863e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 3.75e1
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GenotypeQuality
all individuals: 696
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variant carriers: 0

GenotypeQuality
all individuals: 25777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 606
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GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.5e0
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GenotypeQuality
all individuals: 1635
bin: 9.75e1
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GenotypeQuality
all individuals: 2206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.756035718222908e-5
allele num: 36284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.727115716753022e-4
allele num: 5790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4078
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

DP
type: SiteQuality
SIO_000300: 9.6863e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 300
bin: 1.25e1
variant carriers: 142

GenotypeQuality
all individuals: 970
bin: 3.75e1
variant carriers: 528

GenotypeQuality
all individuals: 812
bin: 5.75e1
variant carriers: 445

GenotypeQuality
all individuals: 730
bin: 2.5e0
variant carriers: 97

GenotypeQuality
all individuals: 503
bin: 7.5e0
variant carriers: 128

GenotypeQuality
all individuals: 1612
bin: 6.75e1
variant carriers: 683

GenotypeQuality
all individuals: 372
bin: 1.75e1
variant carriers: 170

GenotypeQuality
all individuals: 27879
bin: 9.75e1
variant carriers: 27758

GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 558

GenotypeQuality
all individuals: 1159
bin: 5.25e1
variant carriers: 819

GenotypeQuality
all individuals: 7578
bin: 2.25e1
variant carriers: 246

GenotypeQuality
all individuals: 1013
bin: 4.75e1
variant carriers: 755

GenotypeQuality
all individuals: 839
bin: 7.75e1
variant carriers: 588

GenotypeQuality
all individuals: 626
bin: 4.25e1
variant carriers: 416

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 331

GenotypeQuality
all individuals: 12013
bin: 6.25e1
variant carriers: 782

GenotypeQuality
all individuals: 554
bin: 7.25e1
variant carriers: 333

GenotypeQuality
all individuals: 920
bin: 2.75e1
variant carriers: 244

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 448

South Asian
type: Population
allele count: 4319
allele frequency: 3.121115768174592e-1
allele num: 13838
num of homozygotes: 615

Latino
type: Population
allele count: 4524
allele frequency: 4.861379754996776e-1
allele num: 9306
num of homozygotes: 920

African
type: Population
allele count: 3095
allele frequency: 3.819101678183613e-1
allele num: 8104
num of homozygotes: 512

European (Finnish)
type: Population
allele count: 2143
allele frequency: 3.836376655925528e-1
allele num: 5586
num of homozygotes: 358

East Asian
type: Population
allele count: 1715
allele frequency: 2.478323699421965e-1
allele num: 6920
num of homozygotes: 182

Other
type: Population
allele count: 342
allele frequency: 4.351145038167939e-1
allele num: 786
num of homozygotes: 67

European (Non-Finnish)
type: Population
allele count: 26452
allele frequency: 4.638423230693695e-1
allele num: 57028
num of homozygotes: 5442

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.994e1

DP
type: SiteQuality
SIO_000300: 1.519271e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

GenotypeQuality
all individuals: 1088
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12013
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7578
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27879
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.074575542660649e-4
allele num: 9306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.519271e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

QD
type: SiteQuality
SIO_000300: 1.994e1

GenotypeQuality
all individuals: 1402
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
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GenotypeQuality
all individuals: 4398
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.5e0
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GenotypeQuality
all individuals: 2240
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.203079884504331e-4
allele num: 8312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 1.686e1

FS
type: SiteQuality
SIO_000300: 8.087999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

DP
type: SiteQuality
SIO_000300: 1.242387e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
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GenotypeQuality
all individuals: 35844
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variant carriers: 0

GenotypeQuality
all individuals: 312
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GenotypeQuality
all individuals: 1441
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
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variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 3.25e1
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GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 141

GenotypeQuality
all individuals: 939
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 3

GenotypeQuality
all individuals: 1205
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GenotypeQuality
all individuals: 1856
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
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GenotypeQuality
all individuals: 155
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variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 135
allele frequency: 9.361997226074895e-3
allele num: 14420
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.925886712546321e-5
allele num: 60448
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.29366106080207e-4
allele num: 7730
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 7.444168734491315e-3
allele num: 806
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

FS
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 1.280791e6

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

QD
type: SiteQuality
SIO_000300: 1.403e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39803
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
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variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
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GenotypeQuality
all individuals: 1034
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 4603
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 483
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 496
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.942339373970346e-4
allele num: 6070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620482903905364e-5
allele num: 61710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.327794e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 1.565e0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1043
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 486
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 2

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

GenotypeQuality
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 250
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variant carriers: 0

GenotypeQuality
all individuals: 40406
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1179
bin: 9.75e1
variant carriers: 782

GenotypeQuality
all individuals: 4563
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.75e1
variant carriers: 2

African
type: Population
allele count: 17
allele frequency: 1.908825510891534e-3
allele num: 8906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 142
allele frequency: 2.323298429319372e-2
allele num: 6112
num of homozygotes: 4

Latino
type: Population
allele count: 40
allele frequency: 3.804451207913259e-3
allele num: 10514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 8.096073404398866e-4
allele num: 14822
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.024096385542169e-3
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 591
allele frequency: 9.533180630383586e-3
allele num: 61994
num of homozygotes: 4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

QD
type: SiteQuality
SIO_000300: 1.203e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 1.34413e6

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

GenotypeDepth
all individuals: 31769
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
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GenotypeQuality
all individuals: 1043
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4563
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.226118656644192e-5
allele num: 61994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.34413e6

GenotypeDepth
all individuals: 1777
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 894
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
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GenotypeQuality
all individuals: 391
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6388
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variant carriers: 0

GenotypeQuality
all individuals: 889
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GenotypeQuality
all individuals: 463
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GenotypeQuality
all individuals: 1116
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 69
bin: 1.75e1
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GenotypeQuality
all individuals: 715
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1071
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 596
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.245677071637099e-4
allele num: 8906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.203039120594891e-4
allele num: 61860
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.332956e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

GenotypeDepth
all individuals: 3143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
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GenotypeQuality
all individuals: 6825
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variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
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GenotypeQuality
all individuals: 145
bin: 8.75e1
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GenotypeQuality
all individuals: 84
bin: 1.75e1
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GenotypeQuality
all individuals: 4590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 1080
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

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

African
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allele frequency: 1.127649977447e-4
allele num: 8868
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623376623376623e-5
allele num: 61600
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -1.621e0

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.328601e6

ReadPosRankSum
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SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
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SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.982e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 7645
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 14690
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.636714786081377e-5
allele num: 61098
num of homozygotes: 0

East Asian
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allele frequency: 1.25281884239539e-4
allele num: 7982
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

DP
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SIO_000300: 1.321487e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: 9.7e-2

QD
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SIO_000300: 1.458e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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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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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.840259782858267e-5
allele num: 60974
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.012e1

FS
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ClippingRankSum
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SIO_000300: 1.58e-1

ReadPosRankSum
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MQ
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SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
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SIO_000300: 1.32071e6

InbreedingCoeff
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SIO_000300: -8.0e-4

GenotypeDepth
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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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GenotypeQuality
all individuals: 38941
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GenotypeQuality
all individuals: 1093
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.676727028839705e-4
allele num: 5964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60752
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.365e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
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SIO_000300: -1.278e0

BaseQRankSum
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SIO_000300: 3.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 3.951e0

DP
type: SiteQuality
SIO_000300: 1.312559e6

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

GenotypeDepth
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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: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.185567010309278e-4
allele num: 14550
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60292
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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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: 8.400000000000001e-2

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8698
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.658429798666623e-5
allele num: 60298
num of homozygotes: 0

Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5898
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InbreedingCoeff
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SIO_000300: -1.2e-3

MQRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.153668666359022e-4
allele num: 8668
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
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 31
allele frequency: 3.966223132036847e-3
allele num: 7816
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
type: SiteQuality
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FS
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BaseQRankSum
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DP
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
all individuals: 406
bin: 9.75e1
variant carriers: 22

Latino
type: Population
allele count: 4
allele frequency: 4.012036108324975e-4
allele num: 9970
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 19
allele frequency: 3.167300126692005e-4
allele num: 59988
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

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

South Asian
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MQRankSum
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DP
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SIO_000300: 1.295921e6

FS
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 1.027326895418122e-4
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num of homozygotes: 0

Other
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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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: 2

Latino
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allele frequency: 0.0e0
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South Asian
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African
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Other
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East Asian
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European (Non-Finnish)
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allele num: 58488
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European (Finnish)
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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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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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: 5686
num of homozygotes: 0

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

East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.709752427848448e-5
allele num: 58488
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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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 count: 0
allele frequency: 0.0e0
allele num: 14194
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.159603742432581e-5
allele num: 58144
num of homozygotes: 0

African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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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: 1.817520901490367e-3
allele num: 5502
num of homozygotes: 0

African
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allele count: 0
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Latino
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allele frequency: 2.183406113537118e-4
allele num: 9160
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.746334774812783e-4
allele num: 56886
num of homozygotes: 0

South Asian
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Other
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East Asian
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allele num: 7408
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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allele frequency: 1.224589762429586e-4
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Latino
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European (Finnish)
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South Asian
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 5.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.624000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.197293e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15943
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 955
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7222
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.132502831257078e-4
allele num: 8830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 1.182131e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 4.434e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.854393057152394e-5
allele num: 53926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.333e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 4.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 4.419e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

DP
type: SiteQuality
SIO_000300: 1.147996e6

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 350
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1202
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 450
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18741
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27777
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1834
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1831
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 448
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 694
bin: 9.75e1
variant carriers: 350

GenotypeQuality
all individuals: 764
bin: 7.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.381215054973921e-5
allele num: 53298
num of homozygotes: 0

East Asian
type: Population
allele count: 161
allele frequency: 2.313883299798793e-2
allele num: 6958
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13416
num of homozygotes: 0

African
type: Population
allele count: 194
allele frequency: 2.447640676255362e-2
allele num: 7926
num of homozygotes: 3

Latino
type: Population
allele count: 15
allele frequency: 1.826150474799124e-3
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.36986301369863e-3
allele num: 730
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.13921e6

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 684
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.369487811558477e-4
allele num: 7302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.436845097879945e-4
allele num: 49244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.049516e6

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1