3-183962380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962380
    reference: chr 3
allele count: 1
allele frequency: 1.289424143177657e-5
allele num: 77554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*491+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.558+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.726+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.582+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.436+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.606+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*141+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.421+9A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99885T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.275A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*302+9A>G
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19960
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-183962382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962382
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962382
    reference: chr 3
allele count: 1
allele frequency: 1.280770511539742e-5
allele num: 78078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.558+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.273C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.421+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*141+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*491+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.582+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.436+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.726+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*302+7C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99887G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.606+7C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.726+7C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

3-183962384-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962384
    reference: chr 3
allele count: 1
allele frequency: 1.266913292454264e-5
allele num: 78932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.271C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.436+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99889G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.606+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*141+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.582+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.726+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.558+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.421+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*491+5C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*302+5C>G
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.726+5C>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

3-183962387-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962387
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962387
    reference: chr 3
allele count: 1
allele frequency: 1.246851699458866e-5
allele num: 80202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.582+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.606+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*141+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*302+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.268T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.421+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.558+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.436+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*491+2T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99892A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.726+2T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
hgvs: c.726+2T>C
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-183962398-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962398
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962398
    reference: chr 3
allele count: 9
allele frequency: 1.06513917818595e-4
allele num: 84496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*132T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*482T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.257T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.717T>G
  hgvsp: ENST00000397676.3:c.717T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.573T>G
  hgvsp: ENST00000445626.2:c.573T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*293T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.412T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.427T>G
  hgvsp: ENST00000446569.1:c.427T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.597T>G
  hgvsp: ENST00000455059.1:c.597T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99903A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.549T>G
  hgvsp: ENST00000418734.2:c.549T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala239Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

3-183962409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962409
    reference: chr 3
allele count: 1
allele frequency: 1.151463510121364e-5
allele num: 86846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.706G>A
  hgvsp: ENSP00000380793.3:p.Gly236Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.538G>A
  hgvsp: ENSP00000402976.2:p.Gly180Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.586G>A
  hgvsp: ENSP00000397613.1:p.Gly196Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.401G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.416G>A
  hgvsp: ENSP00000397326.1:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99914C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*471G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*282G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.562G>A
  hgvsp: ENSP00000402744.2:p.Gly188Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.246G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21729
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly236Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-183962416-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962416
    reference: chr 3
allele count: 1
allele frequency: 1.133658315383743e-5
allele num: 88210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*464C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*114C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99921G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*275C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.579C>G
  hgvsp: ENST00000455059.1:c.579C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.555C>G
  hgvsp: ENST00000445626.2:c.555C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.531C>G
  hgvsp: ENST00000418734.2:c.531C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.394C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.699C>G
  hgvsp: ENST00000397676.3:c.699C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.409C>G
  hgvsp: ENST00000446569.1:c.409C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.239C>G
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro233Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

3-183962420-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962420
    reference: chr 3
allele count: 1
allele frequency: 1.127217801023514e-5
allele num: 88714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*271T>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.235T>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*460T>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.575T>A
  hgvsp: ENSP00000397613.1:p.Leu192His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99925A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.551T>A
  hgvsp: ENSP00000402744.2:p.Leu184His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.405T>A
  hgvsp: ENSP00000397326.1:p.Leu136His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.695T>A
  hgvsp: ENSP00000380793.3:p.Leu232His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.390T>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.527T>A
  hgvsp: ENSP00000402976.2:p.Leu176His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*110T>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu232His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-183962425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962425
    reference: chr 3
allele count: 1
allele frequency: 1.120975697246884e-5
allele num: 89208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.690G>A
  hgvsp: ENST00000397676.3:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.546G>A
  hgvsp: ENST00000445626.2:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.385G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.522G>A
  hgvsp: ENST00000418734.2:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.230G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*455G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.400G>A
  hgvsp: ENST00000446569.1:c.400G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99930C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*266G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.570G>A
  hgvsp: ENST00000455059.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly230Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-183962430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962430
    reference: chr 3
allele count: 12
allele frequency: 1.335083776506976e-4
allele num: 89882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.685C>T
  hgvsp: ENSP00000380793.3:p.Arg229Cys
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.565C>T
  hgvsp: ENSP00000397613.1:p.Arg189Cys
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.395C>T
  hgvsp: ENSP00000397326.1:p.Arg133Cys
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.380C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.517C>T
  hgvsp: ENSP00000402976.2:p.Arg173Cys
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99935G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.541C>T
  hgvsp: ENSP00000402744.2:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*450C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*100C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.225C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20961
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg229Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-183962443-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962443
    reference: chr 3
allele count: 1
allele frequency: 1.095698288519273e-5
allele num: 91266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.504A>C
  hgvsp: ENST00000418734.2:c.504A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*248A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.367A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.382A>C
  hgvsp: ENST00000446569.1:c.382A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.552A>C
  hgvsp: ENST00000455059.1:c.552A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*437A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*87A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.528A>C
  hgvsp: ENST00000445626.2:c.528A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.672A>C
  hgvsp: ENST00000397676.3:c.672A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99948T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.212A>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr224Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-183962444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962444
    reference: chr 3
allele count: 1
allele frequency: 1.096371011950444e-5
allele num: 91210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*436C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.527C>T
  hgvsp: ENSP00000402744.2:p.Thr176Ile
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.551C>T
  hgvsp: ENSP00000397613.1:p.Thr184Ile
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.366C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.381C>T
  hgvsp: ENSP00000397326.1:p.Thr128Ile
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.211C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.671C>T
  hgvsp: ENSP00000380793.3:p.Thr224Ile
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99949G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.503C>T
  hgvsp: ENSP00000402976.2:p.Thr168Ile
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr224Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-183962445-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962445
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962443
    reference: chr 3
allele count: 2
allele frequency: 2.190100744634253e-5
allele num: 91320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.548_549delTC
  hgvsp: ENSP00000397613.1:p.Leu183HisfsTer40
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*244_*245delTC
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.500_501delTC
  hgvsp: ENSP00000402976.2:p.Leu167HisfsTer40
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.524_525delTC
  hgvsp: ENSP00000402744.2:p.Leu175HisfsTer40
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.363_364delTC
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.668_669delTC
  hgvsp: ENSP00000380793.3:p.Leu223HisfsTer40
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.378_379delTC
  hgvsp: ENSP00000397326.1:p.Leu127HisfsTer40
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*433_*434delTC
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*83_*84delTC
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.208_209delTC
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99952_2106+99953delAG
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu223HisfsTer40
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: TGA
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

3-183962446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962446
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962446
    reference: chr 3
allele count: 31
allele frequency: 3.393615623768446e-4
allele num: 91348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.501C>T
  hgvsp: ENST00000418734.2:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.379C>T
  hgvsp: ENST00000446569.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.669C>T
  hgvsp: ENST00000397676.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*245C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*434C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.525C>T
  hgvsp: ENST00000445626.2:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.549C>T
  hgvsp: ENST00000455059.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.364C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99951G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.209C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21377
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu223Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-183962461-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962461
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962461
    reference: chr 3
allele count: 2
allele frequency: 2.183120115268742e-5
allele num: 91612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*419A>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*69A>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.194A>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.349A>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99966T>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.510A>T
  hgvsp: ENSP00000402744.2:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.534A>T
  hgvsp: ENSP00000397613.1:p.Leu178Phe
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.654A>T
  hgvsp: ENSP00000380793.3:p.Leu218Phe
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.486A>T
  hgvsp: ENSP00000402976.2:p.Leu162Phe
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*230A>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.364A>T
  hgvsp: ENSP00000397326.1:p.Leu122Phe
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu218Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-183962466-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962466
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962466
    reference: chr 3
allele count: 2
allele frequency: 2.186652672089565e-5
allele num: 91464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.529G>T
  hgvsp: ENSP00000397613.1:p.Gly177Trp
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*64G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*414G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.505G>T
  hgvsp: ENSP00000402744.2:p.Gly169Trp
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.481G>T
  hgvsp: ENSP00000402976.2:p.Gly161Trp
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.649G>T
  hgvsp: ENSP00000380793.3:p.Gly217Trp
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.359G>T
  hgvsp: ENSP00000397326.1:p.Gly121Trp
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*225G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.189G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99971C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.344G>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly217Trp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

3-183962472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962472
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962472
    reference: chr 3
allele count: 1
allele frequency: 1.096226787397777e-5
allele num: 91222
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.643G>A
  hgvsp: ENSP00000380793.3:p.Ala215Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.353G>A
  hgvsp: ENSP00000397326.1:p.Ala119Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.499G>A
  hgvsp: ENSP00000402744.2:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.338G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*408G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.523G>A
  hgvsp: ENSP00000397613.1:p.Ala175Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*219G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.475G>A
  hgvsp: ENSP00000402976.2:p.Ala159Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.183G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99977C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala215Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

3-183962473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962473
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962473
    reference: chr 3
allele count: 9
allele frequency: 9.847258085693028e-5
allele num: 91396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.642C>T
  hgvsp: ENST00000397676.3:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.337C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.498C>T
  hgvsp: ENST00000445626.2:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.352C>T
  hgvsp: ENST00000446569.1:c.352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99978G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.182C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.522C>T
  hgvsp: ENST00000455059.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*407C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.474C>T
  hgvsp: ENST00000418734.2:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20855
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe214Phe
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: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

3-183962476-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962476
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962476
    reference: chr 3
allele count: 5
allele frequency: 5.45113601674589e-5
allele num: 91724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*54C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.495C>A
  hgvsp: ENST00000445626.2:c.495C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.519C>A
  hgvsp: ENST00000455059.1:c.519C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*215C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.179C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.639C>A
  hgvsp: ENST00000397676.3:c.639C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99981G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*404C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.471C>A
  hgvsp: ENST00000418734.2:c.471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.349C>A
  hgvsp: ENST00000446569.1:c.349C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.334C>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11015
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21333
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu213Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-183962479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962479
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962479
    reference: chr 3
allele count: 1
allele frequency: 1.094475089746957e-5
allele num: 91368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.468G>T
  hgvsp: ENST00000418734.2:c.468G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*401G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.176G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+99984C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.331G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.636G>T
  hgvsp: ENST00000397676.3:c.636G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.516G>T
  hgvsp: ENST00000455059.1:c.516G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*51G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.492G>T
  hgvsp: ENST00000445626.2:c.492G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.346G>T
  hgvsp: ENST00000446569.1:c.346G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*212G>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu212Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS

3-183962509-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962509
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962509
    reference: chr 3
allele count: 1
allele frequency: 1.132656759695542e-5
allele num: 88288
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606C>G
  hgvsp: ENSP00000380793.3:p.Ser202Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486C>G
  hgvsp: ENSP00000397613.1:p.Ser162Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.301C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438C>G
  hgvsp: ENSP00000402976.2:p.Ser146Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316C>G
  hgvsp: ENSP00000397326.1:p.Ser106Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462C>G
  hgvsp: ENSP00000402744.2:p.Ser154Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100014G>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser202Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

3-183962512-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962512
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962512
    reference: chr 3
allele count: 1
allele frequency: 1.142883265903221e-5
allele num: 87498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.298C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-3C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100017G>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.606-3C>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

3-183962517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962517
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962517
    reference: chr 3
allele count: 9
allele frequency: 1.036030850696443e-4
allele num: 86870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-8C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.293C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100022G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17138
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15295
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.606-8C>T
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-183962519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962519
    reference: chr 3
allele count: 1
allele frequency: 1.151834872952614e-5
allele num: 86818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100024G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.291C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-10C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-10C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-183962527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962527
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962527
    reference: chr 3
allele count: 3
allele frequency: 3.508197488130598e-5
allele num: 85514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100032G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.283C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-18C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-18C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18785
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13934
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-183962533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962533
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962533
    reference: chr 3
allele count: 2
allele frequency: 2.374056312615735e-5
allele num: 84244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.277C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100038G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-24C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-24C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19639
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15766
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
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: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

3-183962537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962537
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962537
    reference: chr 3
allele count: 4
allele frequency: 4.805151122002787e-5
allele num: 83244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100042G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.273C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-28C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-28C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20012
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-183962541-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962541
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962541
    reference: chr 3
allele count: 2
allele frequency: 2.434215330688153e-5
allele num: 82162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.269T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100046A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-32T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-32T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20166
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9291
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

3-183962551-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962551
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962551
    reference: chr 3
allele count: 1
allele frequency: 1.278543483263866e-5
allele num: 78214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*371-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.1013C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.438-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.486-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000462735
  gene symbol: ALG3
  hgvsc: ENST00000462735.2:n.259C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.606-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.146-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.462-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100056G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.316-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-42C>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*182-42C>A
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

3-183962854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962854
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962854
    reference: chr 3
allele count: 1
allele frequency: 5.4608999563128e-5
allele num: 18312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.622G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100359C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.710G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+132G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-345G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13501
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-183962862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962862
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962862
    reference: chr 3
allele count: 262
allele frequency: 1.394358701436934e-2
allele num: 18790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.614C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.718C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100367G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.702C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+124C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-353C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 15908
  bin: 7.5e0
  variant carriers: 435
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31413
  bin: 2.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 4
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-183962867-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962867
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962867
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 19124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100372G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.713C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+119C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.697C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+119C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+119C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+119C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+119C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-358C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.609C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+119C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+119C>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+119C>G
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-183962881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962881
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962881
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+105C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+105C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*21-372C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.683C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+105C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+105C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+105C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100386G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.699C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.595C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+105C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+105C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+105C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24558
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-183962886-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962886
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962886
    reference: chr 3
allele count: 3
allele frequency: 1.347951114306254e-4
allele num: 22256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+100T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.678T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+370T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+100T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.590T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+100T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.694T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+100T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100391A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+100T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+100T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+100T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+100T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20870
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27156
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-183962901-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962901
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962901
    reference: chr 3
allele count: 13
allele frequency: 4.969418960244648e-4
allele num: 26160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+85G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+85G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+85G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.663G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100406C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+85G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.679G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+85G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+85G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+355G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+85G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.575G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+85G>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33554
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

3-183962901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962901
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962901
    reference: chr 3
allele count: 1
allele frequency: 3.82262996941896e-5
allele num: 26160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+85G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+355G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+85G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+85G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.679G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100406C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.663G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+85G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+85G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+85G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.575G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+85G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+85G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-183962912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962912
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962912
    reference: chr 3
allele count: 2
allele frequency: 5.80113702285648e-5
allele num: 34476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+74G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+74G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.668G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.564G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+74G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+74G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.652G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100417C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+74G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+344G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+74G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+74G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+74G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-183962917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962917
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962917
    reference: chr 3
allele count: 1
allele frequency: 2.559115569659126e-5
allele num: 39076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.647C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.663C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+69C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+69C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+69C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+69C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.559C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+339C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+69C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+69C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100422G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+69C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+69C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

3-183962925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962925
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962925
    reference: chr 3
allele count: 1
allele frequency: 2.014991537035545e-5
allele num: 49628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+61T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.639T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+61T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.551T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+61T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100430A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+61T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+61T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+61T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.655T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+61T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+331T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+61T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32509
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

3-183962928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962928
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962928
    reference: chr 3
allele count: 5
allele frequency: 9.391787820729554e-5
allele num: 53238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.636A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+58A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.548A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+58A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+58A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+58A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.652A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+58A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+58A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+58A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+328A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100433T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+58A>G
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12277
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-183962933-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962933
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962933
    reference: chr 3
allele count: 11
allele frequency: 1.834862385321101e-4
allele num: 59950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+53T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+53T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+53T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+323T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+53T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+53T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.647T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+53T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.543T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+53T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100438A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.631T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+53T>G
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-183962938-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962937
    reference: chr 3
allele count: 1
allele frequency: 1.431188458896267e-5
allele num: 69872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+47delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+47delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+317delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+47delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.641delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.537delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.625delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+47delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+47delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+47delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100444delT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+47delA
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+47delA
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: AT
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

3-183962939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962939
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962939
    reference: chr 3
allele count: 1
allele frequency: 1.393223361569327e-5
allele num: 71776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100444T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.641A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.537A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.625A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+47A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+317A>G
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21126
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

3-183962947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962947
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962947
    reference: chr 3
allele count: 1
allele frequency: 1.181809586839368e-5
allele num: 84616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+39G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100452C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+39G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+309G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.529G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.617G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.633G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+39G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+39G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+39G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+39G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+39G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+39G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

3-183962954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962954
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962954
    reference: chr 3
allele count: 25
allele frequency: 2.633020179466656e-4
allele num: 94948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.626G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.610G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100459C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.522G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+32G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+302G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33389
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-183962955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962955
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962955
    reference: chr 3
allele count: 15
allele frequency: 1.530862181580666e-4
allele num: 97984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+31C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+31C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.625C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+301C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+31C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100460G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+31C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+31C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+31C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+31C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.521C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.609C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+31C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34966
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/3-183962963-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962963
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962963
    reference: chr 3
allele count: 1
allele frequency: 9.482088335134931e-6
allele num: 105462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+293T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.601T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+23T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100468A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+23T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.617T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+23T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+23T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+23T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.513T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+23T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+23T>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+23T>G
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38132
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-183962968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962968
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962968
    reference: chr 3
allele count: 1
allele frequency: 9.179364787956674e-6
allele num: 108940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.596T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.508T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.612T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+18T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100473A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+288T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-183962972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962972
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962972
    reference: chr 3
allele count: 2
allele frequency: 1.804044668145983e-5
allele num: 110862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+14C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.504C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.608C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100477G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.592C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+14C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+14C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+14C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+14C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+284C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+14C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+14C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+14C>T
  variant of: http://identifiers.org/hgnc/23056
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-183962979-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962979
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962979
    reference: chr 3
allele count: 1
allele frequency: 8.835483300936561e-6
allele num: 113180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.497A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100484T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.601A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+277A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+7A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.585A>G
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.605+7A>G
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-183962985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962985
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962985
    reference: chr 3
allele count: 1
allele frequency: 8.730574471800245e-6
allele num: 114540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315+1G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485+1G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.595G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605+1G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.491G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100490C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370+1G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+271G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437+1G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.579G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145+1G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461+1G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181+1G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.605+1G>A
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

3-183962986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183962986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183962986
    reference: chr 3
allele count: 1
allele frequency: 8.720220447172904e-6
allele num: 114676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.461G>A
  hgvsp: ENSP00000402744.2:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*370G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.315G>A
  hgvsp: ENSP00000397326.1:p.Ser106Asn
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.578G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.605G>A
  hgvsp: ENSP00000380793.3:p.Ser202Asn
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.594G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.437G>A
  hgvsp: ENSP00000402976.2:p.Ser146Asn
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100491C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.145G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.490G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.485G>A
  hgvsp: ENSP00000397613.1:p.Ser162Asn
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+270G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser202Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-183963000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963000
    reference: chr 3
allele count: 1386
allele frequency: 1.189577039274924e-2
allele num: 116512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.447T>C
  hgvsp: ENST00000445626.2:c.447T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.471T>C
  hgvsp: ENST00000455059.1:c.471T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.301T>C
  hgvsp: ENST00000446569.1:c.301T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*167T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100505A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.476T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.591T>C
  hgvsp: ENST00000397676.3:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.564T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*356T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.131T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.423T>C
  hgvsp: ENST00000418734.2:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+256T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.580T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 3.25e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 40597
  bin: 2.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 2.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
hgvs: p.Gly197Gly
num of homozygotes: 93
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-183963013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963013
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963013
    reference: chr 3
allele count: 16
allele frequency: 1.36483835195769e-4
allele num: 117230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.434G>A
  hgvsp: ENSP00000402744.2:p.Arg145His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*154G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.551G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.578G>A
  hgvsp: ENSP00000380793.3:p.Arg193His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100518C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.463G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.458G>A
  hgvsp: ENSP00000397613.1:p.Arg153His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.410G>A
  hgvsp: ENSP00000402976.2:p.Arg137His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.288G>A
  hgvsp: ENSP00000397326.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*343G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.118G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+243G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.567G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40063
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg193His
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-183963020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963020
    reference: chr 3
allele count: 1
allele frequency: 8.529512111907199e-6
allele num: 117240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+236G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*336G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.560G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.571G>C
  hgvsp: ENSP00000380793.3:p.Ala191Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*147G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.281G>C
  hgvsp: ENSP00000397326.1:p.Ala95Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.544G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.451G>C
  hgvsp: ENSP00000397613.1:p.Ala151Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.403G>C
  hgvsp: ENSP00000402976.2:p.Ala135Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.111G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.427G>C
  hgvsp: ENSP00000402744.2:p.Ala143Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100525C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.456G>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala191Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

3-183963024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963024
    reference: chr 3
allele count: 3
allele frequency: 2.559726962457338e-5
allele num: 117200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.107G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.567G>A
  hgvsp: ENST00000397676.3:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.556G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.277G>A
  hgvsp: ENST00000446569.1:c.277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.447G>A
  hgvsp: ENST00000455059.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.540G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.423G>A
  hgvsp: ENST00000445626.2:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.399G>A
  hgvsp: ENST00000418734.2:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*332G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*143G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100529C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.452G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+232G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu189Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-183963028-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963028
    reference: chr 3
allele count: 1
allele frequency: 8.528348229514908e-6
allele num: 117256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+228T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.443T>C
  hgvsp: ENSP00000397613.1:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*139T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100533A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.395T>C
  hgvsp: ENSP00000402976.2:p.Leu132Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.448T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*328T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.419T>C
  hgvsp: ENSP00000402744.2:p.Leu140Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.536T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.563T>C
  hgvsp: ENSP00000380793.3:p.Leu188Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.273T>C
  hgvsp: ENSP00000397326.1:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.103T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.552T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu188Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

3-183963031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963031
    reference: chr 3
allele count: 1
allele frequency: 8.531986417077625e-6
allele num: 117206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.392A>G
  hgvsp: ENSP00000402976.2:p.Asn131Ser
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.416A>G
  hgvsp: ENSP00000402744.2:p.Asn139Ser
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.440A>G
  hgvsp: ENSP00000397613.1:p.Asn147Ser
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.100A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.549A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.270A>G
  hgvsp: ENSP00000397326.1:p.Asn91Ser
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*136A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*325A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.445A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+225A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.560A>G
  hgvsp: ENSP00000380793.3:p.Asn187Ser
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.533A>G
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100536T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn187Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-183963034-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963034
    reference: chr 3
allele count: 2
allele frequency: 1.707562795621809e-5
allele num: 117126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.546T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.442T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.437T>C
  hgvsp: ENSP00000397613.1:p.Ile146Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.413T>C
  hgvsp: ENSP00000402744.2:p.Ile138Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.557T>C
  hgvsp: ENSP00000380793.3:p.Ile186Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*322T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.267T>C
  hgvsp: ENSP00000397326.1:p.Ile90Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.97T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.389T>C
  hgvsp: ENSP00000402976.2:p.Ile130Thr
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100539A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.530T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+222T>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile186Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-183963038-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963038
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963038
    reference: chr 3
allele count: 1
allele frequency: 8.540438978563499e-6
allele num: 117090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*318A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.409A>C
  hgvsp: ENSP00000402744.2:p.Ser137Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*129A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.93A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.526A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.553A>C
  hgvsp: ENSP00000380793.3:p.Ser185Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+218A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.542A>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.433A>C
  hgvsp: ENSP00000397613.1:p.Ser145Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100543T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.263A>C
  hgvsp: ENSP00000397326.1:p.Ser89Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.385A>C
  hgvsp: ENSP00000402976.2:p.Ser129Arg
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.438A>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser185Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-183963042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963042
    reference: chr 3
allele count: 3
allele frequency: 2.565418163160595e-5
allele num: 116940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.89C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.522C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*314C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.549C>T
  hgvsp: ENST00000397676.3:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.429C>T
  hgvsp: ENST00000455059.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.405C>T
  hgvsp: ENST00000445626.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.538C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.259C>T
  hgvsp: ENST00000446569.1:c.259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.381C>T
  hgvsp: ENST00000418734.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+214C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.434C>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100547G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe183Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-183963046-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963046
    reference: chr 3
allele count: 1
allele frequency: 8.560178051703475e-6
allele num: 116820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.377T>C
  hgvsp: ENSP00000402976.2:p.Leu126Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.534T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.430T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.85T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.545T>C
  hgvsp: ENSP00000380793.3:p.Leu182Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.425T>C
  hgvsp: ENSP00000397613.1:p.Leu142Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+210T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*121T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.401T>C
  hgvsp: ENSP00000402744.2:p.Leu134Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*310T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.255T>C
  hgvsp: ENSP00000397326.1:p.Leu86Pro
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.518T>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100551A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu182Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-183963051-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963051
    reference: chr 3
allele count: 1
allele frequency: 8.587081594449311e-6
allele num: 116454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+205G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.513G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.529G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.420G>T
  hgvsp: ENST00000455059.1:c.420G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.250G>T
  hgvsp: ENST00000446569.1:c.250G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.540G>T
  hgvsp: ENST00000397676.3:c.540G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.425G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.396G>T
  hgvsp: ENST00000445626.2:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100556C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.80G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.372G>T
  hgvsp: ENST00000418734.2:c.372G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*116G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*305G>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val180Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

3-183963051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963051
    reference: chr 3
allele count: 1
allele frequency: 8.587081594449311e-6
allele num: 116454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.540G>A
  hgvsp: ENST00000397676.3:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.529G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.372G>A
  hgvsp: ENST00000418734.2:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.420G>A
  hgvsp: ENST00000455059.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.425G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.396G>A
  hgvsp: ENST00000445626.2:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.513G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*116G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*305G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.250G>A
  hgvsp: ENST00000446569.1:c.250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+205G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100556C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.80G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val180Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

3-183963053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963053
    reference: chr 3
allele count: 1
allele frequency: 8.586049386956073e-6
allele num: 116468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*303G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.538G>A
  hgvsp: ENSP00000380793.3:p.Val180Met
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.248G>A
  hgvsp: ENSP00000397326.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.394G>A
  hgvsp: ENSP00000402744.2:p.Val132Met
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.78G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.370G>A
  hgvsp: ENSP00000402976.2:p.Val124Met
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.511G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*114G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100558C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.418G>A
  hgvsp: ENSP00000397613.1:p.Val140Met
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.423G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.527G>A
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+203G>A
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val180Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-183963062-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963062
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963062
    reference: chr 3
allele count: 1
allele frequency: 8.61341280642216e-6
allele num: 116098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.518G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*294G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.502G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*105G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.414G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100567C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.69G>T
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.361G>T
  hgvsp: ENSP00000402976.2:p.Val121Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.239G>T
  hgvsp: ENSP00000397326.1:p.Val81Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.409G>T
  hgvsp: ENSP00000397613.1:p.Val137Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.529G>T
  hgvsp: ENSP00000380793.3:p.Val177Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.385G>T
  hgvsp: ENSP00000402744.2:p.Val129Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+194G>T
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val177Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-183963062-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183963062
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183963062
    reference: chr 3
allele count: 3
allele frequency: 2.584023841926648e-5
allele num: 116098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000380793
  ensembl transcript: ENST00000397676
  gene symbol: ALG3
  hgvsc: ENST00000397676.3:c.529G>C
  hgvsp: ENSP00000380793.3:p.Val177Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+100567C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402976
  ensembl transcript: ENST00000418734
  gene symbol: ALG3
  hgvsc: ENST00000418734.2:c.361G>C
  hgvsp: ENSP00000402976.2:p.Val121Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000477959
  gene symbol: ALG3
  hgvsc: ENST00000477959.1:n.69G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000461415
  gene symbol: ALG3
  hgvsc: ENST00000461415.1:n.502G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000394917
  ensembl transcript: ENST00000411922
  gene symbol: ALG3
  hgvsc: ENST00000411922.1:c.*105G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000488976
  gene symbol: ALG3
  hgvsc: ENST00000488976.1:n.414G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397326
  ensembl transcript: ENST00000446569
  gene symbol: ALG3
  hgvsc: ENST00000446569.1:c.239G>C
  hgvsp: ENSP00000397326.1:p.Val81Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214160
  ensembl transcript: ENST00000482048
  gene symbol: ALG3
  hgvsc: ENST00000482048.1:n.518G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000397613
  ensembl transcript: ENST00000455059
  gene symbol: ALG3
  hgvsc: ENST00000455059.1:c.409G>C
  hgvsp: ENSP00000397613.1:p.Val137Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000407011
  ensembl transcript: ENST00000423996
  gene symbol: ALG3
  hgvsc: ENST00000423996.1:c.*294G>C
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000402744
  ensembl transcript: ENST00000445626
  gene symbol: ALG3
  hgvsc: ENST00000445626.2:c.385G>C
  hgvsp: ENSP00000402744.2:p.Val129Leu
  variant of: http://identifiers.org/hgnc/23056
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214160
  ensembl protein: ENSP00000392209
  ensembl transcript: ENST00000414845
  gene symbol: ALG3
  hgvsc: ENST00000414845.1:c.*20+194G>C
  variant of: http://identifiers.org/hgnc/23056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val177Leu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 15617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.639881928501148e-4
allele num: 6098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.674e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.18948e5

VQSLOD
type: SiteQuality
SIO_000300: -3.041e-1

GenotypeDepth
all individuals: 39
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 602
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22091
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4565
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17111
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43978
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.586294416243655e-4
allele num: 6304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.165e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.219e0

FS
type: SiteQuality
SIO_000300: 1.842e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 9.30017e5

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeDepth
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21794
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4576
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.598976654940838e-4
allele num: 6254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.35905e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 2.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

QD
type: SiteQuality
SIO_000300: 4.4e0

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 1942
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 579
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21495
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18242
bin: 6.25e1
variant carriers: 0

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

South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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MQ
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DP
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QD
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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: 0

South Asian
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num of homozygotes: 0

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

African
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.997044374325997e-5
allele num: 50074
num of homozygotes: 0

Latino
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ReadPosRankSum
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SIO_000300: 6.42e-1

MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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FS
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MQ
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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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East Asian
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allele frequency: 1.575795776867318e-4
allele num: 6346
num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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Other
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European (Finnish)
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Latino
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FS
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

East Asian
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South Asian
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European (Non-Finnish)
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African
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Other
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allele num: 674
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
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SIO_000300: 1.39e0

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-3

VQSLOD
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QD
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SIO_000300: 1.569e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

DP
type: SiteQuality
SIO_000300: 1.06625e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12322
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.928045347626576e-5
allele num: 51866
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.064912e6

ReadPosRankSum
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QD
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SIO_000300: 9.199999999999999e0

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: 6650
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 2.623983206507478e-4
allele num: 7622
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51916
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.652e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
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SIO_000300: -1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
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SIO_000300: 5.538e0

ClippingRankSum
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SIO_000300: -8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

DP
type: SiteQuality
SIO_000300: 1.066659e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 29

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18280
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.697391237331895e-4
allele num: 51902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12342
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 2.347417840375587e-3
allele num: 7242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.217e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.068056e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.836856846871043e-5
allele num: 52126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
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SIO_000300: -3.3e-3

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

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: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.106355382619974e-5
allele num: 12336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.920934342464175e-5
allele num: 52058
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.34e0

MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -9.471000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.361e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
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allele frequency: 8.116883116883117e-5
allele num: 12320
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51922
num of homozygotes: 0

European (Finnish)
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African
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DP
type: SiteQuality
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.61e0

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: 722
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variant carriers: 9

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7652
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.518763796909492e-4
allele num: 7248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.608732416019679e-5
allele num: 52036
num of homozygotes: 0

Other
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.457e0

FS
type: SiteQuality
SIO_000300: 2.401e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

DP
type: SiteQuality
SIO_000300: 1.06304e6

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 718
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.57450882769714e-5
allele num: 52222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.184e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
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SIO_000300: -3.5e-3

BaseQRankSum
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SIO_000300: -2.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 1.063831e6

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 855
bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12338
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.377031120903333e-4
allele num: 7262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52052
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.279e1

DP
type: SiteQuality
SIO_000300: 1.061272e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.884e0

FS
type: SiteQuality
SIO_000300: 6.284e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 731
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7304
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.431024613623354e-4
allele num: 6988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50420
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 9.93659e5

QD
type: SiteQuality
SIO_000300: 7.3e0

FS
type: SiteQuality
SIO_000300: 5.332e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.047e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 18
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 792
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12078
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.443418013856813e-4
allele num: 6928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -6.52e-1

VQSLOD
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SIO_000300: 3.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 1.366e1

DP
type: SiteQuality
SIO_000300: 9.76314e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 23135
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12038
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.812688821752266e-4
allele num: 49650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4272
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MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.88e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

DP
type: SiteQuality
SIO_000300: 9.60957e5

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.016129032258065e-5
allele num: 49600
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4274
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 630
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VQSLOD
type: SiteQuality
SIO_000300: -2.872e-1

ReadPosRankSum
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QD
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.137228427642077e-5
allele num: 48882
num of homozygotes: 0

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

Latino
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allele count: 0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 7.07e0

InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.495215311004785e-4
allele num: 6688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.076067098488623e-5
allele num: 48168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11816
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.243e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 9.05521e5

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.51e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 3
allele frequency: 4.527618472683369e-4
allele num: 6626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4010
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.099958000839983e-5
allele num: 47620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

QD
type: SiteQuality
SIO_000300: 1.045e1

ClippingRankSum
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SIO_000300: 4.37e-1

VQSLOD
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SIO_000300: -5.177e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

BaseQRankSum
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SIO_000300: -2.48e-1

DP
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SIO_000300: 8.88469e5

MQ
type: SiteQuality
SIO_000300: 5.919e1

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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.258037044922291e-5
allele num: 46970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.341e0

InbreedingCoeff
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SIO_000300: -8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 7.52e0

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.636e-1

DP
type: SiteQuality
SIO_000300: 8.6758e5

GenotypeDepth
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variant carriers: 0

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
all individuals: 1734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.813678829543451e-5
allele num: 11346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.341e0

VQSLOD
type: SiteQuality
SIO_000300: -1.196e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

DP
type: SiteQuality
SIO_000300: 8.31049e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1
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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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 881
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variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.31578947368421e-4
allele num: 7600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.12252e5

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
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SIO_000300: -5.78e-2

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 0

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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variant carriers: 288

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 475
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variant carriers: 10

South Asian
type: Population
allele count: 18
allele frequency: 2.305327868852459e-3
allele num: 7808
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 2.0e-2
allele num: 350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 192
allele frequency: 2.424854761303359e-2
allele num: 7918
num of homozygotes: 4

Other
type: Population
allele count: 2
allele frequency: 1.063829787234043e-2
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 5.851755526657998e-3
allele num: 1538
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.937984496124031e-3
allele num: 516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 33
allele frequency: 6.991525423728813e-2
allele num: 472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

DP
type: SiteQuality
SIO_000300: 4.39787e5

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 496
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
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South Asian
type: Population
allele count: 0
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allele num: 7830
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeDepth
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variant carriers: 0

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: 2.75e1
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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MQ
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SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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SIO_000300: 1.273e1

ReadPosRankSum
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SIO_000300: 7.31e-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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 704
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 1934
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.746253746253746e-4
allele num: 8008
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Other
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allele frequency: 0.0e0
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

African
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allele count: 3
allele frequency: 1.392757660167131e-3
allele num: 2154
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 4.737091425864519e-4
allele num: 12666
num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 4.291845493562232e-3
allele num: 932
num of homozygotes: 0

South Asian
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ClippingRankSum
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SIO_000300: 0.0e0

VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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SIO_000300: -9.22e-1

DP
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QD
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SIO_000300: 6.6e-1

MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.895152376440866e-5
allele num: 12666
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

African
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 6.05444e5

MQ
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BaseQRankSum
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SIO_000300: -9.22e-1

FS
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SIO_000300: 1.6662e1

MQRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 2.4e-2

ReadPosRankSum
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VQSLOD
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SIO_000300: -2.466e0

ClippingRankSum
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1850
num of homozygotes: 0

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

African
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allele frequency: 3.508771929824561e-4
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European (Non-Finnish)
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allele frequency: 5.64334085778781e-5
allele num: 17720
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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FS
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QD
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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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: 0.0e0
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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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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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 2608
num of homozygotes: 0

European (Non-Finnish)
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allele num: 27352
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 2
allele frequency: 1.996805111821086e-4
allele num: 10016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.771397616468039e-5
allele num: 29536
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.335357309668379e-4
allele num: 4282
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -4.42e-1

ReadPosRankSum
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SIO_000300: 7.29e-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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.878526194588371e-4
allele num: 3474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

African
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allele count: 10
allele frequency: 2.08768267223382e-3
allele num: 4790
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -5.9e-3

FS
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BaseQRankSum
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SIO_000300: 2.42e0

QD
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ClippingRankSum
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SIO_000300: -3.2e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.531901964755925e-5
allele num: 39496
num of homozygotes: 0

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

Latino
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 frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3862
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.06e1

MQRankSum
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SIO_000300: 0.0e0

FS
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SIO_000300: 3.332e0

ReadPosRankSum
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ClippingRankSum
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SIO_000300: 1.04e0

DP
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SIO_000300: 9.70174e5

QD
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InbreedingCoeff
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SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
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SIO_000300: -5.43e-1

GenotypeDepth
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variant carriers: 0

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: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.461356699812937e-5
allele num: 40628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 9.86159e5

ClippingRankSum
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SIO_000300: -2.39e-1

QD
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VQSLOD
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SIO_000300: -1.292e0

FS
type: SiteQuality
SIO_000300: 4.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

GenotypeDepth
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variant carriers: 0

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: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084288632289799e-5
allele num: 47978
num of homozygotes: 0

East 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: 6476
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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num of homozygotes: 0

QD
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SIO_000300: 1.193e1

MQRankSum
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SIO_000300: -1.02e0

ClippingRankSum
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SIO_000300: 3.8e-2

MQ
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ReadPosRankSum
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SIO_000300: 5.659999999999999e-1

DP
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BaseQRankSum
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SIO_000300: -4.305e0

FS
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VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
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allele num: 696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.245019920318725e-4
allele num: 8032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 22
allele frequency: 1.642526504404958e-3
allele num: 13394
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African
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allele count: 1
allele frequency: 1.383125864453665e-4
allele num: 7230
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East Asian
type: Population
allele count: 1
allele frequency: 1.483679525222552e-4
allele num: 6740
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.3e-3

QD
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DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.813236627379873e-4
allele num: 55150
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.361832782239018e-4
allele num: 8468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
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African
type: Population
allele count: 2
allele frequency: 2.683843263553408e-4
allele num: 7452
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East Asian
type: Population
allele count: 1
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allele num: 6996
num of homozygotes: 0

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

FS
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SIO_000300: 3.296e0

InbreedingCoeff
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SIO_000300: -9.0e-4

MQ
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SIO_000300: 5.938e1

ClippingRankSum
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SIO_000300: -8.599999999999999e-2

QD
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SIO_000300: 1.188e1

ReadPosRankSum
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SIO_000300: 3.19e-1

DP
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MQRankSum
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SIO_000300: -1.93e-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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.692391010018955e-5
allele num: 59088
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
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SIO_000300: 2.103e0

QD
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 9.0e-4

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.264862130027827e-4
allele num: 7906
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.559e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
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SIO_000300: -3.706e0

ClippingRankSum
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DP
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ReadPosRankSum
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SIO_000300: -1.743e0

BaseQRankSum
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SIO_000300: 6.34e-1

MQRankSum
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SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.616658044490429e-5
allele num: 61856
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 2.15e-1

QD
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GenotypeDepth
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.586948931983369e-5
allele num: 63014
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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SIO_000300: 7.39e-1

GenotypeDepth
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variant carriers: 0

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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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
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allele num: 63728
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South Asian
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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
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South Asian
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African
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European (Non-Finnish)
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Other
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FS
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 102

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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variant carriers: 1

GenotypeQuality
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variant carriers: 1231

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.941814015421299e-4
allele num: 64586
num of homozygotes: 0

African
type: Population
allele count: 1311
allele frequency: 1.420368364030336e-1
allele num: 9230
num of homozygotes: 93

Latino
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allele count: 50
allele frequency: 4.522431259044862e-3
allele num: 11056
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.259604484191964e-4
allele num: 15878
num of homozygotes: 0

Other
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allele count: 4
allele frequency: 4.662004662004662e-3
allele num: 858
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
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SIO_000300: 1.97e0

VQSLOD
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SIO_000300: 5.71e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -5.1e-2

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 2.65e-1

InbreedingCoeff
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SIO_000300: 1.042e-1

QD
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SIO_000300: 1.38e1

DP
type: SiteQuality
SIO_000300: 1.411538e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 517
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.254691018263698e-5
allele num: 15988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538508877196221e-5
allele num: 64998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
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allele count: 14
allele frequency: 1.648222274546739e-3
allele num: 8494
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MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
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SIO_000300: -5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
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SIO_000300: 7.7e-3

QD
type: SiteQuality
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DP
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SIO_000300: 1.406236e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 639
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

FS
type: SiteQuality
SIO_000300: 1.697e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.404024e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.287e0

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 433
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.357378595002357e-4
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.081782778018174e-4
allele num: 9244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 7.12e0

FS
type: SiteQuality
SIO_000300: 7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.985e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 1.400782e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.566e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 3
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GenotypeDepth
all individuals: 13
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GenotypeDepth
all individuals: 19
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1339
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538603563405853e-5
allele num: 64994
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.025e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
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SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 421
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64984
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

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.081548777849881e-4
allele num: 9246
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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MQ
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SIO_000300: 5.934e1

ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.253e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

East Asian
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allele frequency: 2.365744026496333e-4
allele num: 8454
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64934
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QD
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MQRankSum
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.540642139643804e-5
allele num: 64908
num of homozygotes: 0

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

DP
type: SiteQuality
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 8.981498113885396e-5
allele num: 11134
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.08546744831842e-5
allele num: 64820
num of homozygotes: 0

Other
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64772
num of homozygotes: 0

Latino
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allele num: 11112
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South Asian
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num of homozygotes: 0

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

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

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

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

African
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allele count: 1
allele frequency: 1.089799476896251e-4
allele num: 9176
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64562
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.089799476896251e-4
allele num: 9176
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.548754801139884e-5
allele num: 64568
num of homozygotes: 0

Latino
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African
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Other
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554001554001554e-5
allele num: 64350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.356686e6

VQSLOD
type: SiteQuality
SIO_000300: -8.711e-1

FS
type: SiteQuality
SIO_000300: 1.2052e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.151e0

QD
type: SiteQuality
SIO_000300: 1.101e1

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeDepth
all individuals: 666
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 33613
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.75e1
variant carriers: 0